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ADDRESS (Annotated Database of Disease-RElated Sequences and Structures) maps disease-associated/benign mutations from HUMSAVAR to residues on PDB structures. It also performs and integrates structural analysis of mutations, including contact numbers and prediction of free-energy changes upon mutations (ΔΔG) by EvoEF and FoldX. The ADDRESS database can be used for hypothesis assessment and benchmarking of disease-associated prediction algorithms.

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# UniProt accession
(Gene in neXtProt)		 Wild type amino acid Mutant amino acid Residue index in UniProt dbSNP Disease association [OMIM ID]
45001 Q5VW36 (FOCAD) T A 1373 rs3206852 Benign
45002 Q5VW36 (FOCAD) T P 1373 rs3206852 Benign
45003 Q5VW36 (FOCAD) T S 1373 rs3206852 Benign
45004 Q5VW36 (FOCAD) K E 1668 rs4977881 Benign
45005 Q5VW38 (GPR107) A P 189 rs640343 Benign
45006 Q5VWC8 (HACD4) T A 36 rs2298260 Benign
45007 Q5VWG9 (TAF3) S T 349 rs17366712 Benign
45008 Q5VWG9 (TAF3) N S 442 rs4747647 Benign
45009 Q5VWG9 (TAF3) V A 696 rs1244229 Benign
45010 Q5VWG9 (TAF3) V L 696 rs10795583 Benign
45011 Q5VWI1 (TCERG1L) P Q 339 rs17857275 Benign
45012 Q5VWI1 (TCERG1L) E K 529 rs17857276 Benign
45013 Q5VWI1 (TCERG1L) Q K 566 rs17854242 Benign
45014 Q5VWJ9 (SNX30) D H 83 rs2796036 Benign
45015 Q5VWJ9 (SNX30) P A 125 rs10117709 Benign
45016 Q5VWK5 (IL23R) Q H 3 rs1884444 Benign
45017 Q5VWK5 (IL23R) T N 175 rs11465797 Benign
45018 Q5VWK5 (IL23R) L P 310 rs7530511 Benign
45019 Q5VWK5 (IL23R) R Q 381 rs11209026 Benign
45020 Q5VWN6 (TASOR2) C G 499 rs2254067 Benign
45021 Q5VWN6 (TASOR2) A D 630 rs4748636 Benign
45022 Q5VWN6 (TASOR2) S Y 724 rs56856085 Benign
45023 Q5VWN6 (TASOR2) I V 807 rs45575338 Benign
45024 Q5VWN6 (TASOR2) R P 1075 rs2797491 Benign
45025 Q5VWN6 (TASOR2) V M 1206 rs3814196 Benign
45026 Q5VWN6 (TASOR2) P S 1578 rs17143175 Benign
45027 Q5VWN6 (TASOR2) V A 1679 rs2669142 Benign
45028 Q5VWN6 (TASOR2) T I 1782 rs11593253 Benign
45029 Q5VWN6 (TASOR2) K R 2288 rs2275774 Benign
45030 Q5VWN6 (TASOR2) S N 2404 rs2797501 Benign
45031 Q5VWP2 (TENT5C) H Q 67 rs1630312 Benign
45032 Q5VWP3 (MLIP) R H 6 rs17625497 Benign
45033 Q5VWP3 (MLIP) V I 159 rs4712056 Benign
45034 Q5VWP3 (MLIP) S T 320 rs6934690 Benign
45035 Q5VWP3 (MLIP) P S 376 rs2275769 Benign
45036 Q5VWQ8 (DAB2IP) S F 59 rs7027492 Benign
45037 Q5VWT5 (FYB2) I M 125 rs17114336 Benign
45038 Q5VWX1 (KHDRBS2) G A 308 rs7449840 Benign
45039 Q5VWZ2 (LYPLAL1) I M 131 rs940570 Benign
45040 Q5VWZ2 (LYPLAL1) L V 197 rs34201999 Benign
45041 Q5VX52 (SPATA1) V L 175 rs10493753 Benign
45042 Q5VXI9 (LIPN) T N 244 rs10788611 Benign
45043 Q5VXJ0 (LIPK) M I 331 rs1214464 Benign
45044 Q5VXJ0 (LIPK) I T 391 rs17112457 Benign
45045 Q5VXM1 (CDCP2) G R 244 rs3766465 Benign
45046 Q5VXU9 (SHOC1) T S 226 rs10981047 Benign
45047 Q5VXU9 (SHOC1) H R 416 rs7470491 Benign
45048 Q5VXU9 (SHOC1) I T 649 rs1322257 Benign
45049 Q5VXU9 (SHOC1) M L 734 rs11791445 Benign
45050 Q5VXU9 (SHOC1) R K 788 rs7868266 Benign
45051 Q5VXU9 (SHOC1) N K 809 rs7036568 Benign
45052 Q5VXU9 (SHOC1) Y C 932 rs1407390 Benign
45053 Q5VXU9 (SHOC1) L P 968 rs6477845 Benign
45054 Q5VXU9 (SHOC1) I T 1162 rs1475110 Benign
45055 Q5VXU9 (SHOC1) E G 1174 rs7869279 Benign
45056 Q5VXU9 (SHOC1) N K 1380 rs1322254 Benign
45057 Q5VXU9 (SHOC1) R C 1425 rs10981009 Benign
45058 Q5VY09 (IER5) R H 92 rs3747955 Benign
45059 Q5VY09 (IER5) V I 168 rs3747954 Benign
45060 Q5VY09 (IER5) R G 194 rs1416829 Benign
45061 Q5VY09 (IER5) Q R 202 rs1361365 Benign
45062 Q5VY09 (IER5) P S 285 rs3747951 Benign
45063 Q5VY43 (PEAR1) S P 234 rs1952294 Benign
45064 Q5VY43 (PEAR1) N K 848 rs822442 Benign
45065 Q5VY43 (PEAR1) R H 885 rs11264581 Benign
45066 Q5VY43 (PEAR1) N D 903 rs12137505 Benign
45067 Q5VY80 (RAET1L) R G 26 rs1543547 Benign
45068 Q5VY80 (RAET1L) M T 85 rs912565 Benign
45069 Q5VY80 (RAET1L) L R 106 rs1555696 Benign
45070 Q5VY80 (RAET1L) T I 147 rs61730071 Benign
45071 Q5VYJ5 (MALRD1) A V 666 rs16918344 Benign
45072 Q5VYJ5 (MALRD1) D H 793 rs4601653 Benign
45073 Q5VYJ5 (MALRD1) S N 887 rs2358355 Benign
45074 Q5VYJ5 (MALRD1) D A 1266 rs7100382 Benign
45075 Q5VYJ5 (MALRD1) I V 1277 rs7100403 Benign
45076 Q5VYJ5 (MALRD1) K N 1357 rs1609746 Benign
45077 Q5VYJ5 (MALRD1) V A 1417 rs10827306 Benign
45078 Q5VYJ5 (MALRD1) D G 1513 rs12773592 Benign
45079 Q5VYJ5 (MALRD1) E K 1516 rs12771333 Benign
45080 Q5VYJ5 (MALRD1) V I 1602 rs10763975 Benign
45081 Q5VYJ5 (MALRD1) L I 1683 rs16918863 Benign
45082 Q5VYJ5 (MALRD1) H Q 1721 rs12256835 Benign
45083 Q5VYJ5 (MALRD1) M T 1807 rs7100661 Benign
45084 Q5VYJ5 (MALRD1) P S 1895 rs16919132 Benign
45085 Q5VYJ5 (MALRD1) S N 1941 rs10827628 Benign
45086 Q5VYJ5 (MALRD1) M R 2013 rs16919148 Benign
45087 Q5VYK3 (ECPAS) T S 472 rs16916091 Benign
45088 Q5VYM1 (C9orf131) W L 222 rs615474 Benign
45089 Q5VYM1 (C9orf131) L F 285 rs10117097 Benign
45090 Q5VYM1 (C9orf131) L V 437 rs35523761 Benign
45091 Q5VYM1 (C9orf131) S T 623 rs2298312 Benign
45092 Q5VYM1 (C9orf131) P S 916 rs3739871 Benign
45093 Q5VYS4 (MEDAG) R G 59 rs9531945 Benign
45094 Q5VYS8 (TUT7) A V 40 rs2378695 Benign
45095 Q5VYV7 (SLX4IP) R Q 317 rs6077853 Benign
45096 Q5VYX0 (RNLS) E D 37 rs2296545 Benign
45097 Q5VYY1 (ANKRD22) E G 73 rs17113412 Benign
45098 Q5VYY1 (ANKRD22) Y H 79 rs17851907 Benign
45099 Q5VYY1 (ANKRD22) Q P 148 rs2304804 Benign
45100 Q5VYY1 (ANKRD22) R I 177 rs7912706 Benign
45101 Q5VYY2 (LIPM) L S 274 rs3910680 Benign
45102 Q5VYY2 (LIPM) R W 418 rs11202862 Benign
45103 Q5VZ03 (NXNL2) S C 76 rs17852066 Benign
45104 Q5VZ19 (TDRD10) R Q 181 rs12750774 Benign
45105 Q5VZ19 (TDRD10) V I 215 rs3811448 Benign
45106 Q5VZ46 (KIAA1614) L P 64 rs10732273 Benign
45107 Q5VZ46 (KIAA1614) H Y 214 rs3747959 Benign
45108 Q5VZ46 (KIAA1614) R W 740 rs17302207 Benign
45109 Q5VZ46 (KIAA1614) L F 801 rs3795504 Benign
45110 Q5VZ46 (KIAA1614) N D 1078 rs2331995 Benign
45111 Q5VZ66 (JAKMIP3) M V 493 rs11592585 Benign
45112 Q5VZ89 (DENND4C) V G 1227 rs34267952 Benign
45113 Q5VZ89 (DENND4C) T A 1266 rs17818730 Benign
45114 Q5VZ89 (DENND4C) N H 1343 rs6475322 Benign
45115 Q5VZK9 (CARMIL1) V I 77 rs9358856 Benign
45116 Q5VZK9 (CARMIL1) P L 545 rs12207840 Benign
45117 Q5VZK9 (CARMIL1) A G 639 rs7454756 Benign
45118 Q5VZK9 (CARMIL1) N S 1117 rs9885914 Benign
45119 Q5VZL5 (ZMYM4) V I 452 rs34924462 Benign
45120 Q5VZP5 (DUSP27) E D 265 rs267745 Benign
45121 Q5VZP5 (DUSP27) R H 466 rs6668826 Benign
45122 Q5VZP5 (DUSP27) A T 505 rs3795605 Benign
45123 Q5VZP5 (DUSP27) K Q 855 rs267746 Benign
45124 Q5VZP5 (DUSP27) T N 1124 rs2281959 Benign
45125 Q5VZQ5 (TEX36) E Q 38 rs9422915 Benign
45126 Q5VZT2 (C10orf113) R G 72 rs11591355 Benign
45127 Q5VZT2 (C10orf113) D H 110 rs625223 Benign
45128 Q5VZV1 (METTL21C) G R 15 rs2390760 Benign
45129 Q5VZV1 (METTL21C) N S 46 rs16960383 Benign
45130 Q5W041 (ARMC3) E G 345 rs16922864 Benign
45131 Q5W041 (ARMC3) S P 608 rs11013233 Benign
45132 Q5W041 (ARMC3) R Q 626 rs10828395 Benign
45133 Q5W064 (LIPJ) I V 210 rs1409136 Benign
45134 Q5W0A0 (ERICH6B) E D 63 rs12020217 Benign
45135 Q5W0A0 (ERICH6B) E G 99 rs12020731 Benign
45136 Q5W0A0 (ERICH6B) S T 174 rs17066954 Benign
45137 Q5W0A0 (ERICH6B) E K 178 rs3014939 Benign
45138 Q5W0A0 (ERICH6B) L P 303 rs11618506 Benign
45139 Q5W0A0 (ERICH6B) T I 427 rs749071 Benign
45140 Q5W0A0 (ERICH6B) P R 439 rs12429125 Benign
45141 Q5W0A0 (ERICH6B) H R 453 rs17066902 Benign
45142 Q5W0A0 (ERICH6B) R C 565 rs7327901 Benign
45143 Q5W0A0 (ERICH6B) V F 653 rs1536207 Benign
45144 Q5W0Q7 (USPL1) E G 173 rs17853512 Benign
45145 Q5W0Q7 (USPL1) P S 384 rs3742303 Benign
45146 Q5W0Q7 (USPL1) A P 522 rs17609459 Benign
45147 Q5W0Q7 (USPL1) L S 531 rs7984952 Benign
45148 Q5W0Q7 (USPL1) I V 583 rs41412648 Benign
45149 Q5W0Q7 (USPL1) S C 739 rs9578190 Benign
45150 Q5W0Q7 (USPL1) L I 786 rs35371042 Benign
45151 Q5W0Q7 (USPL1) S N 950 rs3742302 Benign
45152 Q5W0Q7 (USPL1) T S 1043 rs17857086 Benign
45153 Q5W0U4 (BSPRY) A P 261 rs34089316 Benign
45154 Q5W0U4 (BSPRY) Q H 293 rs818711 Benign
45155 Q5W0U4 (BSPRY) T I 374 rs3088235 Benign
45156 Q5W0V3 (FAM160B1) L I 408 rs17853717 Benign
45157 Q5W0V3 (FAM160B1) F L 631 rs3180654 Benign
45158 Q5W186 (CST9) L F 48 rs2983640 Benign
45159 Q5XG87 (TENT4A) N S 556 rs28381415 Benign
45160 Q5XG87 (TENT4A) G S 626 rs28381418 Benign
45161 Q5XG99 (LYSMD4) A V 157 rs8041089 Benign
45162 Q5XG99 (LYSMD4) A V 161 rs8041078 Benign
45163 Q5XG99 (LYSMD4) A G 180 rs2061007 Benign
45164 Q5XKE5 (KRT79) L S 81 rs2638497 Benign
45165 Q5XKE5 (KRT79) F L 195 rs17855862 Benign
45166 Q5XKE5 (KRT79) H R 266 rs17688672 Benign
45167 Q5XKE5 (KRT79) A V 393 rs17688627 Benign
45168 Q5XKL5 (BTBD8) V I 60 rs34856868 Benign
45169 Q5XKL5 (BTBD8) K R 136 rs17131602 Benign
45170 Q5XKR9 (FAM104B) S G 60 rs1047037 Benign
45171 Q5XPI4 (RNF123) P R 51 rs2960546 Benign
45172 Q5XPI4 (RNF123) R Q 387 rs35620248 Benign
45173 Q5XPI4 (RNF123) K E 596 rs35726701 Benign
45174 Q5XPI4 (RNF123) R H 854 rs34823813 Benign
45175 Q5XUX1 (FBXW9) R K 70 rs6511833 Benign
45176 Q5XUX1 (FBXW9) T A 219 rs10424623 Benign
45177 Q5XX13 (FBXW10) I N 23 rs11544711 Benign
45178 Q5XX13 (FBXW10) R G 372 rs7209610 Benign
45179 Q5XX13 (FBXW10) A T 821 rs1026259 Benign
45180 Q5XXA6 (ANO1) F S 608 rs2186797 Benign
45181 Q5XXA6 (ANO1) G R 983 rs3740722 Benign
45182 Q5ZPR3 (CD276) P L 97 rs7173448 Benign
45183 Q5ZPR3 (CD276) R S 111 rs7173476 Benign
45184 Q5ZPR3 (CD276) Q L 137 rs11574477 Benign
45185 Q5ZPR3 (CD276) T M 160 rs11574479 Benign
45186 Q5ZPR3 (CD276) R H 267 rs11574483 Benign
45187 Q5ZPR3 (CD276) A T 279 rs10083681 Benign
45188 Q5ZPR3 (CD276) P L 315 rs148625372 Benign
45189 Q5ZPR3 (CD276) R S 329 rs7173476 Benign
45190 Q5ZPR3 (CD276) T M 378 rs11574479 Benign
45191 Q60I27 (ALS2CL) Q R 29 rs59661801 Benign
45192 Q60I27 (ALS2CL) E Q 45 rs7642448 Benign
45193 Q63HK3 (ZKSCAN2) L F 253 rs2112811 Benign
45194 Q63HK3 (ZKSCAN2) E D 615 rs8059494 Benign
45195 Q63HK3 (ZKSCAN2) P S 947 rs7197424 Benign
45196 Q63HK5 (TSHZ3) E G 469 rs143453460 Benign
45197 Q63HK5 (TSHZ3) P L 687 rs4805664 Benign
45198 Q63HM2 (PCNX4) Q H 770 rs3742642 Benign
45199 Q63HM2 (PCNX4) D Y 811 rs12895606 Benign
45200 Q63HM2 (PCNX4) G S 1000 rs167437 Benign
45201 Q63HN1 (FAM205BP) N K 72 rs521552 Benign
45202 Q63HN1 (FAM205BP) D E 203 rs524512 Benign
45203 Q63HN8 (RNF213) D E 2554 rs138516230 Benign
45204 Q63HN8 (RNF213) E G 3915 rs61740658 Benign
45205 Q63HN8 (RNF213) D N 4013 - Disease: Moyamoya disease 2 (MYMY2) [MIM:607151]
45206 Q63HN8 (RNF213) A T 4399 rs148731719 Disease: Moyamoya disease 2 (MYMY2) [MIM:607151]
45207 Q63HN8 (RNF213) V M 4567 rs145282452 Benign
45208 Q63HN8 (RNF213) W L 4677 - Benign
45209 Q63HN8 (RNF213) R K 4810 - Disease: Moyamoya disease 2 (MYMY2) [MIM:607151]
45210 Q63HN8 (RNF213) A V 5021 rs138130613 Benign
45211 Q63HQ0 (AP1AR) T I 297 rs34900583 Benign
45212 Q63HQ2 (EGFLAM) R P 26 rs12522205 Benign
45213 Q63HQ2 (EGFLAM) R H 111 rs2561111 Benign
45214 Q63HQ2 (EGFLAM) W R 229 rs1465567 Benign
45215 Q63HQ2 (EGFLAM) T M 473 rs16903965 Benign
45216 Q63HQ2 (EGFLAM) H N 576 rs6897179 Benign
45217 Q63HQ2 (EGFLAM) V M 745 rs2561818 Benign
45218 Q63HR2 (TNS2) S T 353 rs11170389 Benign
45219 Q63HR2 (TNS2) A T 670 rs11558984 Benign
45220 Q63ZY3 (KANK2) G S 118 rs755237 Benign
45221 Q63ZY3 (KANK2) S G 181 rs1555820663 Disease: Nephrotic syndrome 16 (NPHS16) [MIM:617783]
45222 Q63ZY3 (KANK2) M T 401 rs17616661 Benign
45223 Q63ZY3 (KANK2) A V 670 rs606231303 Disease: Palmoplantar keratoderma and woolly hair (PPKWH) [MIM:616099]
45224 Q63ZY3 (KANK2) S F 676 rs1555816634 Disease: Nephrotic syndrome 16 (NPHS16) [MIM:617783]
45225 Q63ZY6 (NSUN5P2) W S 47 rs400282 Benign
45226 Q63ZY6 (NSUN5P2) A V 90 rs395127 Benign
45227 Q63ZY6 (NSUN5P2) C R 272 rs17145838 Benign
45228 Q63ZY6 (NSUN5P2) K R 303 - Benign
45229 Q64LD2 (WDR25) K R 59 rs2273801 Benign
45230 Q64LD2 (WDR25) W R 88 rs2181170 Benign
45231 Q64LD2 (WDR25) T M 119 rs34331240 Benign
45232 Q64LD2 (WDR25) H R 149 rs2273800 Benign
45233 Q658L1 (SAXO2) S G 8 rs11631813 Benign
45234 Q658L1 (SAXO2) P L 34 rs16973457 Benign
45235 Q658L1 (SAXO2) W R 225 rs11630197 Benign
45236 Q658N2 (WSCD1) H Y 212 rs17855415 Benign
45237 Q658P3 (STEAP3) A T 184 rs17013371 Benign
45238 Q658Y4 (FAM91A1) I V 704 rs6470187 Benign
45239 Q658Y4 (FAM91A1) C Y 800 rs1946586 Benign
45240 Q659C4 (LARP1B) P R 462 rs12508837 Benign
45241 Q659C4 (LARP1B) R H 660 rs12645577 Benign
45242 Q66GS9 (CEP135) I L 769 rs3214045 Benign
45243 Q66K14 (TBC1D9B) L P 240 rs1057078 Benign
45244 Q66K14 (TBC1D9B) V I 706 rs10037618 Benign
45245 Q66K14 (TBC1D9B) K T 1119 rs30386 Benign
45246 Q66K74 (MAP1S) L V 372 rs17710707 Benign
45247 Q66K74 (MAP1S) S C 411 rs17710707 Benign
45248 Q66K74 (MAP1S) P Q 538 rs7252905 Benign
45249 Q66K79 (CPZ) L P 5 rs2302583 Benign
45250 Q66K79 (CPZ) P L 6 rs34964084 Benign
45251 Q66K79 (CPZ) Q L 130 rs35993494 Benign
45252 Q66K79 (CPZ) I T 486 rs7378066 Benign
45253 Q66K79 (CPZ) T M 501 rs9991535 Benign
45254 Q66K80 (RUSC1-AS1) R S 231 rs16836822 Benign
45255 Q66K89 (E4F1) R H 167 rs26839 Benign
45256 Q66K89 (E4F1) V I 355 rs59784157 Benign
45257 Q66LE6 (PPP2R2D) G S 358 rs34473884 Benign
45258 Q66PJ3 (ARL6IP4) P A 149 rs12825243 Benign
45259 Q674R7 (ATG9B) P L 166 rs61078191 Benign
45260 Q674X7 (KAZN) A T 706 rs10803354 Benign
45261 Q674X7 (KAZN) R C 763 rs12048768 Benign
45262 Q676U5 (ATG16L1) T A 300 rs2241880 Disease: Inflammatory bowel disease 10 (IBD10) [MIM:611081]
45263 Q676U5 (ATG16L1) E K 307 rs1866878 Benign
45264 Q67FW5 (B3GNTL1) A T 341 rs7225887 Benign
45265 Q684P5 (RAP1GAP2) L M 202 rs17762452 Benign
45266 Q685J3 (MUC17) K Q 227 rs10229731 Benign
45267 Q685J3 (MUC17) G E 272 rs10259584 Benign
45268 Q685J3 (MUC17) A T 427 rs56103274 Benign
45269 Q685J3 (MUC17) P L 571 rs34834039 Benign
45270 Q685J3 (MUC17) P R 925 rs149445753 Benign
45271 Q685J3 (MUC17) R S 942 rs10238201 Benign
45272 Q685J3 (MUC17) T M 982 rs4729646 Benign
45273 Q685J3 (MUC17) I T 1130 rs4729647 Benign
45274 Q685J3 (MUC17) S T 1242 rs10265276 Benign
45275 Q685J3 (MUC17) T N 1246 rs4729652 Benign
45276 Q685J3 (MUC17) T S 1246 rs4729651 Benign
45277 Q685J3 (MUC17) P A 1249 rs4729653 Benign
45278 Q685J3 (MUC17) L P 1348 rs4269454 Benign
45279 Q685J3 (MUC17) C R 1375 rs4367469 Benign
45280 Q685J3 (MUC17) V A 1480 rs7780935 Benign
45281 Q685J3 (MUC17) A T 2096 rs28593004 Benign
45282 Q685J3 (MUC17) R G 2159 rs28555173 Benign
45283 Q685J3 (MUC17) S N 3299 rs35988443 Benign
45284 Q685J3 (MUC17) D N 4334 rs6946812 Benign
45285 Q685J3 (MUC17) R Q 4482 rs9656065 Benign
45286 Q687X5 (STEAP4) G D 75 rs1981529 Benign
45287 Q687X5 (STEAP4) A T 122 rs34741656 Benign
45288 Q68BL7 (OLFML2A) T A 309 rs7874348 Benign
45289 Q68BL7 (OLFML2A) R Q 425 rs16927649 Benign
45290 Q68BL8 (OLFML2B) Y C 10 rs12130792 Benign
45291 Q68BL8 (OLFML2B) W R 470 rs2499836 Benign
45292 Q68CJ6 (NUGGC) R P 23 rs6998705 Benign
45293 Q68CJ6 (NUGGC) S G 180 rs4732620 Benign
45294 Q68CJ6 (NUGGC) Q R 328 rs7817227 Benign
45295 Q68CJ6 (NUGGC) S N 474 rs13279787 Benign
45296 Q68CJ6 (NUGGC) R W 492 rs2305453 Benign
45297 Q68CL5 (TPGS2) R C 47 rs2303507 Benign
45298 Q68CP4 (HGSNAT) A V 82 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45299 Q68CP4 (HGSNAT) C F 104 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45300 Q68CP4 (HGSNAT) L P 141 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45301 Q68CP4 (HGSNAT) R W 152 - Disease: Retinitis pigmentosa 73 (RP73) [MIM:616544]
45302 Q68CP4 (HGSNAT) G A 161 - Disease: Retinitis pigmentosa 73 (RP73) [MIM:616544]
45303 Q68CP4 (HGSNAT) L P 165 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45304 Q68CP4 (HGSNAT) P Q 265 - Benign
45305 Q68CP4 (HGSNAT) I R 280 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45306 Q68CP4 (HGSNAT) G R 290 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45307 Q68CP4 (HGSNAT) N K 301 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45308 Q68CP4 (HGSNAT) P L 311 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45309 Q68CP4 (HGSNAT) R C 372 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45310 Q68CP4 (HGSNAT) R H 372 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45311 Q68CP4 (HGSNAT) W C 431 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45312 Q68CP4 (HGSNAT) G S 452 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45313 Q68CP4 (HGSNAT) G V 452 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45314 Q68CP4 (HGSNAT) L P 473 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45315 Q68CP4 (HGSNAT) E K 499 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45316 Q68CP4 (HGSNAT) V L 509 - Benign
45317 Q68CP4 (HGSNAT) M K 510 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45318 Q68CP4 (HGSNAT) G E 514 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45319 Q68CP4 (HGSNAT) A E 517 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45320 Q68CP4 (HGSNAT) S F 546 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45321 Q68CP4 (HGSNAT) K Q 551 rs73569592 Benign
45322 Q68CP4 (HGSNAT) S C 567 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45323 Q68CP4 (HGSNAT) S L 569 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45324 Q68CP4 (HGSNAT) D V 590 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45325 Q68CP4 (HGSNAT) P L 599 - Disease: Mucopolysacc haridosis 3C (MPS3C) [MIM:252930]
45326 Q68CQ1 (MROH7) H R 182 rs11206407 Benign
45327 Q68CQ1 (MROH7) V M 290 rs12094920 Benign
45328 Q68CQ1 (MROH7) Y D 306 rs1655519 Benign
45329 Q68CQ1 (MROH7) S F 312 rs17399810 Benign
45330 Q68CQ1 (MROH7) E G 316 rs1655518 Benign
45331 Q68CQ1 (MROH7) T M 352 rs12074499 Benign
45332 Q68CQ1 (MROH7) K R 455 rs2304314 Benign
45333 Q68CQ1 (MROH7) V A 509 rs480963 Benign
45334 Q68CQ1 (MROH7) H R 618 rs570218 Benign
45335 Q68CQ4 (DIEXF) Q E 67 rs585627 Benign
45336 Q68CQ7 (GLT8D1) R H 210 rs2276812 Benign
45337 Q68CR1 (SEL1L3) Q R 107 rs16877661 Benign
45338 Q68CR1 (SEL1L3) I V 401 rs16877591 Benign
45339 Q68CR1 (SEL1L3) I V 554 rs16877591 Benign
45340 Q68CR1 (SEL1L3) W C 1054 rs2286866 Benign
45341 Q68CR1 (SEL1L3) P S 1122 rs7671168 Benign
45342 Q68CR7 (LRRC66) G A 342 rs17081784 Benign
45343 Q68CZ1 (RPGRIP1L) A T 229 rs61747071 Benign
45344 Q68CZ1 (RPGRIP1L) E K 393 rs375776718 Disease: Joubert syndrome 7 (JBTS7) [MIM:611560]
45345 Q68CZ1 (RPGRIP1L) L S 447 rs138155747 Benign
45346 Q68CZ1 (RPGRIP1L) L F 546 rs147331527 Benign
45347 Q68CZ1 (RPGRIP1L) Q R 550 rs772900011 Disease: Joubert syndrome 7 (JBTS7) [MIM:611560]
45348 Q68CZ1 (RPGRIP1L) T P 615 rs121918198 Disease: Joubert syndrome 7 (JBTS7) [MIM:611560]
45349 Q68CZ1 (RPGRIP1L) C R 633 rs898062661 Disease: Joubert syndrome 7 (JBTS7) [MIM:611560]
45350 Q68CZ1 (RPGRIP1L) V I 647 rs145572901 Benign
45351 Q68CZ1 (RPGRIP1L) S P 659 rs267607020 Disease: COACH syndrome (COACHS) [MIM:216360]
45352 Q68CZ1 (RPGRIP1L) T I 677 rs532768944 Disease: Joubert syndrome 7 (JBTS7) [MIM:611560]
45353 Q68CZ1 (RPGRIP1L) A P 695 rs121918200 Disease: Joubert syndrome 7 (JBTS7) [MIM:611560]
45354 Q68CZ1 (RPGRIP1L) R Q 744 rs2302677 Benign
45355 Q68CZ1 (RPGRIP1L) R L 937 rs776795273 Benign
45356 Q68CZ1 (RPGRIP1L) G S 1025 rs2111119 Benign
45357 Q68CZ1 (RPGRIP1L) A G 1183 rs139974543 Benign
45358 Q68CZ1 (RPGRIP1L) R C 1236 rs151332923 Disease: Meckel syndrome 5 (MKS5) [MIM:611561]
45359 Q68CZ1 (RPGRIP1L) D N 1264 rs3213758 Benign
45360 Q68CZ2 (TNS3) Q H 600 rs2293362 Benign
45361 Q68CZ2 (TNS3) G S 679 rs7808646 Benign
45362 Q68CZ2 (TNS3) E K 1034 rs3807590 Benign
45363 Q68CZ6 (HAUS3) I T 586 rs11937432 Benign
45364 Q68D06 (SLFN13) N S 4 rs12943866 Benign
45365 Q68D06 (SLFN13) A T 50 rs7216628 Benign
45366 Q68D06 (SLFN13) P L 433 rs16970912 Benign
45367 Q68D06 (SLFN13) D V 642 rs11657183 Benign
45368 Q68D06 (SLFN13) E K 652 rs3744371 Benign
45369 Q68D10 (SPTY2D1) S F 317 rs12795406 Benign
45370 Q68D10 (SPTY2D1) R Q 447 rs16935599 Benign
45371 Q68D10 (SPTY2D1) K R 617 rs35411689 Benign
45372 Q68D51 (DENND2C) D E 2 rs7541738 Benign
45373 Q68D51 (DENND2C) D G 170 rs12136548 Benign
45374 Q68D86 (CCDC102B) K N 153 rs572020 Benign
45375 Q68D86 (CCDC102B) K R 298 rs2187094 Benign
45376 Q68D86 (CCDC102B) C F 346 rs745894 Benign
45377 Q68D86 (CCDC102B) E G 370 rs34102373 Benign
45378 Q68D86 (CCDC102B) N K 425 rs17080065 Benign
45379 Q68D86 (CCDC102B) A P 429 rs9963788 Benign
45380 Q68D91 (MBLAC2) T A 128 rs2162986 Benign
45381 Q68DA7 (FMN1) L P 686 rs2306277 Benign
45382 Q68DC2 (ANKS6) R W 222 rs41283630 Benign
45383 Q68DC2 (ANKS6) A P 312 - Disease: Nephronophth isis 16 (NPHP16) [MIM:615382]
45384 Q68DC2 (ANKS6) R Q 440 rs763855876 Benign
45385 Q68DC2 (ANKS6) Q R 441 rs377750405 Disease: Nephronophth isis 16 (NPHP16) [MIM:615382]
45386 Q68DC2 (ANKS6) G S 640 rs749102463 Benign
45387 Q68DC2 (ANKS6) V I 644 rs6415847 Benign
45388 Q68DC2 (ANKS6) P A 735 rs79414550 Benign
45389 Q68DD2 (PLA2G4F) G V 30 rs636604 Benign
45390 Q68DD2 (PLA2G4F) M V 740 rs1356410 Benign
45391 Q68DE3 (USF3) P A 222 rs9866806 Benign
45392 Q68DE3 (USF3) A E 907 rs9852318 Benign
45393 Q68DE3 (USF3) V G 943 rs6770105 Benign
45394 Q68DE3 (USF3) A V 1966 rs2290477 Benign
45395 Q68DE3 (USF3) A V 2200 rs930818 Benign
45396 Q68DK2 (ZFYVE26) K E 429 rs34059852 Benign
45397 Q68DK2 (ZFYVE26) T S 898 rs17192170 Benign
45398 Q68DK2 (ZFYVE26) T M 951 rs35471427 Benign
45399 Q68DK2 (ZFYVE26) S N 1071 rs7156206 Benign
45400 Q68DK2 (ZFYVE26) P L 1103 rs3742885 Benign
45401 Q68DK2 (ZFYVE26) A V 1122 rs3742884 Benign
45402 Q68DK2 (ZFYVE26) C Y 1457 rs2235967 Benign
45403 Q68DK2 (ZFYVE26) S N 1891 rs3742883 Benign
45404 Q68DK2 (ZFYVE26) R H 2411 rs34373049 Benign
45405 Q68DN1 (C2orf16) R G 357 rs17006143 Benign
45406 Q68DN1 (C2orf16) D V 505 rs13410886 Benign
45407 Q68DN1 (C2orf16) T S 655 rs1919125 Benign
45408 Q68DN1 (C2orf16) A E 660 rs1919126 Benign
45409 Q68DN1 (C2orf16) V A 685 rs1919127 Benign
45410 Q68DN1 (C2orf16) I T 767 rs13416968 Benign
45411 Q68DN1 (C2orf16) I V 774 rs1919128 Benign
45412 Q68DN1 (C2orf16) S F 1500 rs12618071 Benign
45413 Q68DN1 (C2orf16) H Y 1559 rs13392197 Benign
45414 Q68DN1 (C2orf16) N S 1613 rs13031957 Benign
45415 Q68DN1 (C2orf16) S P 1665 rs28381983 Benign
45416 Q68DQ2 (CRYBG3) R H 2381 rs11918990 Benign
45417 Q68DQ2 (CRYBG3) Y C 2709 rs17302349 Benign
45418 Q68DQ2 (CRYBG3) N H 2874 rs4857302 Benign
45419 Q68DV7 (RNF43) I V 47 rs3744093 Benign
45420 Q68DV7 (RNF43) R H 117 rs2257205 Benign
45421 Q68DV7 (RNF43) R Q 221 rs2285990 Benign
45422 Q68DV7 (RNF43) P L 231 rs2680701 Benign
45423 Q68DV7 (RNF43) R H 343 rs34523089 Benign
45424 Q68DV7 (RNF43) L M 418 rs2526374 Benign
45425 Q68DV7 (RNF43) P R 686 rs9652855 Benign
45426 Q68DX3 (FRMPD2) A T 20 rs11101272 Benign
45427 Q68DX3 (FRMPD2) T M 239 rs55802136 Benign
45428 Q68DX3 (FRMPD2) G R 351 rs116143480 Benign
45429 Q68DX3 (FRMPD2) K E 534 rs1864345 Benign
45430 Q68DX3 (FRMPD2) T K 1021 rs1898784 Benign
45431 Q68DY1 (ZNF626) M T 65 rs8106117 Benign
45432 Q68DY1 (ZNF626) N H 68 rs3209058 Benign
45433 Q68DY1 (ZNF626) Q E 89 rs8111015 Benign
45434 Q68DY1 (ZNF626) S N 90 rs8110802 Benign
45435 Q68DY1 (ZNF626) C Y 464 rs4809072 Benign
45436 Q68DY1 (ZNF626) E K 500 rs10408597 Benign
45437 Q68DY9 (ZNF772) C W 182 rs2074060 Benign
45438 Q68DY9 (ZNF772) M L 218 rs2074059 Benign
45439 Q68EA5 (ZNF57) T N 223 rs2288958 Benign
45440 Q68EA5 (ZNF57) R W 230 rs2288957 Benign
45441 Q68EA5 (ZNF57) T M 357 rs55682587 Benign
45442 Q68G75 (LEMD1) P S 25 rs7531012 Benign
45443 Q68J44 (DUPD1) D N 66 rs11594934 Benign
45444 Q68J44 (DUPD1) S R 137 rs16931938 Benign
45445 Q693B1 (KCTD11) G S 22 rs8080182 Benign
45446 Q695T7 (SLC6A19) R C 57 rs762989809 Disease: Hartnup disorder (HND) [MIM:234500]
45447 Q695T7 (SLC6A19) G R 66 rs1251095994 Disease: Hartnup disorder (HND) [MIM:234500]
45448 Q695T7 (SLC6A19) A T 69 - Disease: Hartnup disorder (HND) [MIM:234500]
45449 Q695T7 (SLC6A19) G R 93 rs757679627 Disease: Hartnup disorder (HND) [MIM:234500]
45450 Q695T7 (SLC6A19) D N 173 rs121434346 Disease: Hartnup disorder (HND) [MIM:234500]
45451 Q695T7 (SLC6A19) R Q 240 rs758492838 Disease: Hartnup disorder (HND) [MIM:234500]
45452 Q695T7 (SLC6A19) L P 242 rs200745023 Disease: Hartnup disorder (HND) [MIM:234500]
45453 Q695T7 (SLC6A19) V I 252 rs7732589 Benign
45454 Q695T7 (SLC6A19) P L 265 rs148139045 Disease: Hartnup disorder (HND) [MIM:234500]
45455 Q695T7 (SLC6A19) G R 284 rs200842846 Disease: Hartnup disorder (HND) [MIM:234500]
45456 Q695T7 (SLC6A19) R C 328 rs142164435 Disease: Hartnup disorder (HND) [MIM:234500]
45457 Q695T7 (SLC6A19) E K 405 rs765501634 Disease: Hartnup disorder (HND) [MIM:234500]
45458 Q695T7 (SLC6A19) E K 501 rs1236852017 Disease: Hartnup disorder (HND) [MIM:234500]
45459 Q695T7 (SLC6A19) D G 517 rs745524993 Disease: Hartnup disorder (HND) [MIM:234500]
45460 Q695T7 (SLC6A19) P L 579 rs751554174 Disease: Hartnup disorder (HND) [MIM:234500]
45461 Q69YH5 (CDCA2) V I 717 rs4872318 Benign
45462 Q69YH5 (CDCA2) R S 884 rs3829009 Benign
45463 Q69YN2 (CWF19L1) C Y 160 rs2270962 Benign
45464 Q69YN2 (CWF19L1) P L 259 rs7073610 Benign
45465 Q69YN2 (CWF19L1) R H 523 rs35490714 Benign
45466 Q69YN2 (CWF19L1) R Q 526 rs7922946 Benign
45467 Q69YN4 (VIRMA) I V 753 rs7814840 Benign
45468 Q69YQ0 (SPECC1L) T M 190 rs142144652 Benign
45469 Q69YQ0 (SPECC1L) D G 301 rs204710 Benign
45470 Q69YQ0 (SPECC1L) T P 397 rs786201030 Disease: Opitz GBBB syndrome 2 (GBBB2) [MIM:145410]
45471 Q69YQ0 (SPECC1L) Q P 415 rs387907108 Disease: Facial clefting, oblique, 1 (OBLFC1) [MIM:600251]
45472 Q69YQ0 (SPECC1L) S F 712 rs5760340 Benign
45473 Q69YQ0 (SPECC1L) T A 717 rs6004132 Benign
45474 Q69YQ0 (SPECC1L) V A 943 rs11704759 Benign
45475 Q69YQ0 (SPECC1L) V M 951 rs204718 Benign
45476 Q69YQ0 (SPECC1L) G S 1083 rs786201031 Disease: Opitz GBBB syndrome 2 (GBBB2) [MIM:145410]
45477 Q69YU5 (BRAWNIN) R C 45 rs2293624 Benign
45478 Q6A162 (KRT40) T A 37 rs1510069 Benign
45479 Q6A162 (KRT40) F S 85 rs17843015 Benign
45480 Q6A162 (KRT40) S N 102 rs1510068 Benign
45481 Q6A162 (KRT40) T M 153 rs9908304 Benign
45482 Q6A162 (KRT40) R H 235 rs2010027 Benign
45483 Q6A162 (KRT40) C Y 265 rs721957 Benign
45484 Q6A162 (KRT40) E D 286 rs721958 Benign
45485 Q6A162 (KRT40) M T 303 rs9908389 Benign
45486 Q6A162 (KRT40) S L 406 rs16968862 Benign
45487 Q6A163 (KRT39) T M 341 rs17843021 Benign
45488 Q6A163 (KRT39) L M 383 rs17843023 Benign
45489 Q6A163 (KRT39) R Q 456 rs7213256 Benign
45490 Q6A555 (TXNDC8) N H 60 rs7041938 Benign
45491 Q6AHZ1 (ZNF518A) N H 946 rs3814228 Benign
45492 Q6AHZ1 (ZNF518A) R Q 1328 rs3814226 Benign
45493 Q6AI08 (HEATR6) A V 71 rs3744376 Benign
45494 Q6AI08 (HEATR6) S L 1006 rs16943991 Benign
45495 Q6AI14 (SLC9A4) G S 116 rs17027275 Benign
45496 Q6AI14 (SLC9A4) I V 581 rs6742280 Benign
45497 Q6AW86 (ZNF324B) S G 63 rs12611254 Benign
45498 Q6AWC2 (WWC2) A S 773 rs11941467 Benign
45499 Q6AWC2 (WWC2) V F 816 rs11734376 Benign
45500 Q6AWC2 (WWC2) D H 904 rs3814422 Benign
45501 Q6AWC2 (WWC2) R C 979 rs45470696 Benign
45502 Q6AWC2 (WWC2) A T 1189 rs4862155 Benign
45503 Q6AZY7 (SCARA3) R Q 130 rs34791518 Benign
45504 Q6AZY7 (SCARA3) M T 325 rs33930667 Benign
45505 Q6AZY7 (SCARA3) R Q 423 rs3735754 Benign
45506 Q6AZY7 (SCARA3) V I 428 rs34086286 Benign
45507 Q6AZY7 (SCARA3) F L 467 rs17057523 Benign
45508 Q6AZY7 (SCARA3) P S 551 rs35928641 Benign
45509 Q6AZZ1 (TRIM68) C Y 442 rs2231975 Benign
45510 Q6AZZ1 (TRIM68) R H 457 rs2231976 Benign
45511 Q6AZZ1 (TRIM68) Y S 466 rs7109316 Benign
45512 Q6B0I6 (KDM4D) S R 355 rs35631512 Benign
45513 Q6B0I6 (KDM4D) R Q 408 rs3740853 Benign
45514 Q6B0I6 (KDM4D) A S 471 rs34366036 Benign
45515 Q6B8I1 (DUSP13) K R 73 rs7912300 Benign
45516 Q6B9Z1 (IGFL4) L P 25 rs10412490 Benign
45517 Q6B9Z1 (IGFL4) R Q 60 rs17271272 Benign
45518 Q6BCY4 (CYB5R2) E A 15 rs11041525 Benign
45519 Q6BCY4 (CYB5R2) N D 209 rs12801394 Benign
45520 Q6BDI9 (REP15) N D 101 rs929949 Benign
45521 Q6BDI9 (REP15) E D 206 rs12819160 Benign
45522 Q6BDS2 (UHRF1BP1) K N 404 rs16894945 Benign
45523 Q6BDS2 (UHRF1BP1) Q R 454 rs11755393 Benign
45524 Q6BDS2 (UHRF1BP1) K E 854 rs3734265 Benign
45525 Q6BDS2 (UHRF1BP1) Q H 984 rs9469913 Benign
45526 Q6BDS2 (UHRF1BP1) M T 1098 rs13205210 Benign
45527 Q6BEB4 (SP5) A T 75 rs3749036 Benign
45528 Q6DD87 (ZNF787) G A 379 rs4077285 Benign
45529 Q6DD88 (ATL3) Y C 192 rs587777108 Disease: Neuropathy, hereditary sensory, 1F (HSN1F) [MIM:615632]
45530 Q6DHV5 (CC2D2B) N D 1100 rs17383738 Benign
45531 Q6DHV5 (CC2D2B) Y H 1273 rs9943393 Benign
45532 Q6DHV5 (CC2D2B) Q L 1437 rs1336459 Benign
45533 Q6DJT9 (PLAG1) P T 458 rs35883156 Benign
45534 Q6DKI2 (LGALS9C) V M 126 rs3907319 Benign
45535 Q6DKI7 (PVRIG) N D 81 rs2906645 Benign
45536 Q6DN12 (MCTP2) A T 877 rs34193492 Benign
45537 Q6DN14 (MCTP1) R K 612 rs9885412 Benign
45538 Q6DN72 (FCRL6) S G 427 rs4443889 Benign
45539 Q6DN90 (IQSEC1) R Q 335 - Disease: Intellectual developmenta l disorder with short stature and behavioral abnormalitie s (IDDSSBA) [MIM:618687]
45540 Q6DN90 (IQSEC1) T M 357 - Disease: Intellectual developmenta l disorder with short stature and behavioral abnormalitie s (IDDSSBA) [MIM:618687]
45541 Q6DN90 (IQSEC1) P S 640 rs35319679 Benign
45542 Q6DN90 (IQSEC1) V I 882 rs17541405 Benign
45543 Q6DT37 (CDC42BPG) P L 168 rs34454471 Benign
45544 Q6DT37 (CDC42BPG) T P 362 rs55688429 Benign
45545 Q6DT37 (CDC42BPG) A D 537 rs34241745 Benign
45546 Q6DT37 (CDC42BPG) Q R 1135 rs3741395 Benign
45547 Q6E0U4 (DMKN) E D 69 rs12460932 Benign
45548 Q6E0U4 (DMKN) V A 91 rs4806163 Benign
45549 Q6E0U4 (DMKN) N S 139 rs7247001 Benign
45550 Q6E0U4 (DMKN) G S 280 rs11667007 Benign
45551 Q6E0U4 (DMKN) A S 415 rs2293696 Benign
45552 Q6E0U4 (DMKN) D A 427 rs909072 Benign
45553 Q6ECI4 (ZNF470) V L 23 rs10421285 Benign
45554 Q6ECI4 (ZNF470) K R 254 rs3752179 Benign
45555 Q6ECI4 (ZNF470) T I 418 rs4801177 Benign
45556 Q6ECI4 (ZNF470) I T 642 rs35077804 Benign
45557 Q6EEV4 (POLR2M) A P 127 rs11858659 Benign
45558 Q6EEV6 (SUMO4) M V 55 rs237025 Benign
45559 Q6EMB2 (TTLL5) A V 149 rs2303345 Benign
45560 Q6EMB2 (TTLL5) E D 203 rs17856074 Benign
45561 Q6EMB2 (TTLL5) E K 543 rs199882533 Disease: Cone-rod dystrophy 19 (CORD19) [MIM:615860]
45562 Q6EMB2 (TTLL5) A T 592 rs11848004 Benign
45563 Q6EMB2 (TTLL5) A S 1223 rs10130991 Benign
45564 Q6EMB2 (TTLL5) P T 1231 rs11844617 Benign
45565 Q6EMB2 (TTLL5) F S 1267 rs1133834 Benign
45566 Q6EMK4 (VASN) E A 384 rs3810818 Benign
45567 Q6F5E8 (CARMIL2) R T 50 - Disease: Immunodefici ency 58 (IMD58) [MIM:618131]
45568 Q6F5E8 (CARMIL2) L R 372 - Disease: Immunodefici ency 58 (IMD58) [MIM:618131]
45569 Q6F5E8 (CARMIL2) L Q 525 - Disease: Immunodefici ency 58 (IMD58) [MIM:618131]
45570 Q6F5E8 (CARMIL2) L H 639 rs775061512 Disease: Immunodefici ency 58 (IMD58) [MIM:618131]
45571 Q6FHJ7 (SFRP4) P T 320 rs1802073 Benign
45572 Q6FHJ7 (SFRP4) R K 340 rs1802074 Benign
45573 Q6FI81 (CIAPIN1) A E 34 rs11557672 Benign
45574 Q6FI81 (CIAPIN1) Q E 52 rs11557674 Benign
45575 Q6GMV1 (ALG1L) N D 135 rs3828357 Benign
45576 Q6GMV1 (ALG1L) I T 159 rs3811679 Benign
45577 Q6GMV1 (ALG1L) G S 184 rs3187686 Benign
45578 Q6GPH4 (XAF1) E G 85 rs34195599 Benign
45579 Q6GPH4 (XAF1) R H 132 rs2271232 Benign
45580 Q6GPH4 (XAF1) E K 188 rs34625877 Benign
45581 Q6GPH4 (XAF1) R I 219 rs3736433 Benign
45582 Q6GPH6 (ITPRIPL1) G R 280 rs17853311 Benign
45583 Q6GPH6 (ITPRIPL1) S C 428 rs35855657 Benign
45584 Q6GPH6 (ITPRIPL1) T M 463 rs2279105 Benign
45585 Q6GPI1 (CTRB2) A T 250 rs4737 Benign
45586 Q6GTS8 (PM20D1) H Y 33 rs11540014 Benign
45587 Q6GTS8 (PM20D1) I V 149 rs1891460 Benign
45588 Q6GTS8 (PM20D1) R W 153 rs1104899 Benign
45589 Q6GTS8 (PM20D1) I T 237 rs7518979 Benign
45590 Q6GTS8 (PM20D1) S C 258 rs11581214 Benign
45591 Q6GTS8 (PM20D1) G R 346 rs11240573 Benign
45592 Q6GTS8 (PM20D1) I T 380 rs1361754 Benign
45593 Q6GTX8 (LAIR1) E D 63 rs3745442 Benign
45594 Q6GV28 (TMEM225) N S 134 rs10893099 Benign
45595 Q6GV28 (TMEM225) C R 196 rs1939927 Benign
45596 Q6GYQ0 (RALGAPA1) T A 931 rs2274068 Benign
45597 Q6H3X3 (RAET1G) T R 70 rs9397449 Benign
45598 Q6H9L7 (ISM2) A T 94 rs3742728 Benign
45599 Q6H9L7 (ISM2) P A 133 rs11850175 Benign
45600 Q6HA08 (ASTL) R H 204 rs41320144 Benign
45601 Q6HA08 (ASTL) Q R 222 rs749458 Benign
45602 Q6HA08 (ASTL) K Q 277 rs1657502 Benign
45603 Q6IA17 (SIGIRR) S Y 80 rs117739035 Benign
45604 Q6IA17 (SIGIRR) P R 115 rs111819059 Benign
45605 Q6IA17 (SIGIRR) Q R 312 rs3210908 Benign
45606 Q6IA69 (NADSYN1) V L 74 rs2276360 Benign
45607 Q6IA69 (NADSYN1) Q H 204 rs7950441 Benign
45608 Q6IA69 (NADSYN1) P L 297 rs7121106 Benign
45609 Q6IA69 (NADSYN1) M I 591 rs35007971 Benign
45610 Q6IA69 (NADSYN1) G S 704 rs12282060 Benign
45611 Q6IA86 (ELP2) T P 128 rs1785934 Benign
45612 Q6IA86 (ELP2) V M 305 rs1785928 Benign
45613 Q6IA86 (ELP2) H R 359 rs16967474 Benign
45614 Q6IA86 (ELP2) I T 541 rs28463092 Benign
45615 Q6IA86 (ELP2) T P 543 rs17563617 Benign
45616 Q6IA86 (ELP2) E G 795 rs12607773 Benign
45617 Q6IA86 (ELP2) H P 806 rs1044128 Benign
45618 Q6IA86 (ELP2) T P 815 rs1044134 Benign
45619 Q6IAA8 (LAMTOR1) S L 73 rs1053443 Benign
45620 Q6IB77 (GLYAT) S T 17 rs10896818 Benign
45621 Q6IB77 (GLYAT) N S 156 rs675815 Benign
45622 Q6IBS0 (TWF2) R C 72 rs35114109 Benign
45623 Q6IBS0 (TWF2) Q R 76 rs35711542 Benign
45624 Q6IC83 (C22orf42) L P 73 rs5998267 Benign
45625 Q6IC98 (GRAMD4) S I 159 rs36211078 Benign
45626 Q6ICB4 (PHETA2) A G 188 rs1807493 Benign
45627 Q6ICG8 (WBP2NL) Q E 5 rs17002790 Benign
45628 Q6ICG8 (WBP2NL) D G 121 rs133335 Benign
45629 Q6ICG8 (WBP2NL) C F 170 rs17002802 Benign
45630 Q6ICG8 (WBP2NL) Q H 285 rs2301521 Benign
45631 Q6ICH7 (ASPHD2) N S 235 rs34902186 Benign
45632 Q6ICL3 (TANGO2) D N 125 rs17855650 Benign
45633 Q6ICL3 (TANGO2) G R 154 rs752298579 Disease: Metabolic crises, recurrent, with rhabdomyolys is, cardiac arrhythmias, and neurodegener ation (MECRCN) [MIM:616878]
45634 Q6ICL3 (TANGO2) E K 200 rs17854107 Benign
45635 Q6ICL3 (TANGO2) D E 245 rs16982614 Benign
45636 Q6IE36 (OVOS2) T M 211 rs7971718 Benign
45637 Q6IE36 (OVOS2) L V 587 rs12309295 Benign
45638 Q6IE36 (OVOS2) S L 789 rs11051266 Benign
45639 Q6IE36 (OVOS2) V A 1328 rs17418189 Benign
45640 Q6IE81 (JADE1) N S 662 rs6855813 Benign
45641 Q6IEE7 (TMEM132E) R Q 510 rs139895222 Disease: Deafness, autosomal recessive, 99 (DFNB99) [MIM:618481]
45642 Q6IEE8 (SLFN12L) L S 275 rs12451679 Benign
45643 Q6IEE8 (SLFN12L) A G 373 rs2304967 Benign
45644 Q6IEE8 (SLFN12L) C Y 430 rs777316634 Benign
45645 Q6IEE8 (SLFN12L) Y S 518 rs3744372 Benign
45646 Q6IEG0 (SNRNP48) P L 45 rs2757594 Benign
45647 Q6IEG0 (SNRNP48) R Q 281 rs3823184 Benign
45648 Q6IEU7 (OR5M10) V L 69 rs10792043 Benign
45649 Q6IEU7 (OR5M10) I T 313 rs10896488 Benign
45650 Q6IEV9 (OR4C11) P T 8 rs491160 Benign
45651 Q6IEV9 (OR4C11) L I 15 rs11230346 Benign
45652 Q6IEV9 (OR4C11) T P 277 rs2456022 Benign
45653 Q6IEZ7 (OR2T5) K R 13 rs1770043 Benign
45654 Q6IF42 (OR2A2) Q K 5 rs10230228 Benign
45655 Q6IF42 (OR2A2) L P 210 rs10252253 Benign
45656 Q6IF42 (OR2A2) F L 280 rs2961149 Benign
45657 Q6IF63 (OR52W1) H R 239 rs10839531 Benign
45658 Q6IF63 (OR52W1) L Q 254 rs11040799 Benign
45659 Q6IF63 (OR52W1) T A 266 rs325609 Benign
45660 Q6IF82 (OR4A47) G D 82 rs12805819 Benign
45661 Q6IF82 (OR4A47) I L 104 rs7103557 Benign
45662 Q6IF82 (OR4A47) V M 145 rs7103992 Benign
45663 Q6IF82 (OR4A47) A D 192 rs7103932 Benign
45664 Q6IF99 (OR10K2) A T 208 rs12240099 Benign
45665 Q6IFH4 (OR6B2) C R 179 rs10187574 Benign
45666 Q6IFH4 (OR6B2) R C 227 rs60841887 Benign
45667 Q6IFN5 (OR7E24) S F 193 rs12980833 Benign
45668 Q6IFN5 (OR7E24) P S 242 rs2240928 Benign
45669 Q6IMI4 (SULT6B1) A T 61 rs45552433 Benign
45670 Q6IMI4 (SULT6B1) V D 75 rs45626240 Benign
45671 Q6IMI4 (SULT6B1) K E 88 rs45493492 Benign
45672 Q6IMI4 (SULT6B1) L F 150 rs10205833 Benign
45673 Q6IMI4 (SULT6B1) E V 167 rs7425881 Benign
45674 Q6IMI4 (SULT6B1) R S 181 rs45439591 Benign
45675 Q6IMI4 (SULT6B1) K R 296 rs45495394 Benign
45676 Q6IMI6 (SULT1C3) A T 88 rs11903659 Benign
45677 Q6IMI6 (SULT1C3) Y C 148 rs17035911 Benign
45678 Q6IMI6 (SULT1C3) G R 179 rs2219078 Benign
45679 Q6IMI6 (SULT1C3) M T 194 rs6722745 Benign
45680 Q6IMN6 (CAPRIN2) P S 114 rs17688567 Benign
45681 Q6IMN6 (CAPRIN2) K R 237 rs12146709 Benign
45682 Q6IMN6 (CAPRIN2) M V 519 rs2304630 Benign
45683 Q6IMN6 (CAPRIN2) S L 655 rs2304628 Benign
45684 Q6IN84 (MRM1) P S 98 rs60978234 Benign
45685 Q6IPM2 (IQCE) H N 101 rs11976972 Benign
45686 Q6IPM2 (IQCE) A V 546 rs2293404 Benign
45687 Q6IPM2 (IQCE) R H 587 rs10950797 Benign
45688 Q6IPM2 (IQCE) T A 596 rs2293407 Benign
45689 Q6IPM2 (IQCE) L V 666 rs3735109 Benign
45690 Q6IPM2 (IQCE) T M 690 rs1061566 Benign
45691 Q6IPR3 (TYW3) R Q 110 rs11538281 Benign
45692 Q6IPR3 (TYW3) M V 121 rs1133891 Benign
45693 Q6IPT2 (FAM71E1) S I 206 rs736769 Benign
45694 Q6IPT4 (CYB5RL) R K 47 rs946448 Benign
45695 Q6IQ16 (SPOPL) R Q 45 rs36099753 Benign
45696 Q6IQ19 (CCSAP) A V 123 rs6587326 Benign
45697 Q6IQ20 (NAPEPLD) S A 152 rs12540583 Benign
45698 Q6IQ20 (NAPEPLD) D N 389 rs3181009 Benign
45699 Q6IQ23 (PLEKHA7) L I 241 rs35908144 Benign
45700 Q6IQ23 (PLEKHA7) A V 248 rs16933529 Benign
45701 Q6IQ23 (PLEKHA7) Q R 279 rs369819 Benign
45702 Q6IQ23 (PLEKHA7) S R 689 rs61133161 Benign
45703 Q6IQ23 (PLEKHA7) V I 693 rs34556458 Benign
45704 Q6IQ26 (DENND5A) E Q 224 rs952374 Benign
45705 Q6IQ49 (SDE2) M I 312 rs34348128 Benign
45706 Q6IQ55 (TTBK2) L P 8 rs6493068 Benign
45707 Q6IQ55 (TTBK2) R Q 120 rs35328266 Benign
45708 Q6IQ55 (TTBK2) T A 313 rs56017612 Benign
45709 Q6IQ55 (TTBK2) K I 367 rs764753481 Benign
45710 Q6IQ55 (TTBK2) V M 440 rs56311523 Benign
45711 Q6IQ55 (TTBK2) R P 500 rs56039839 Benign
45712 Q6IQ55 (TTBK2) G E 724 rs201524659 Benign
45713 Q6IQ55 (TTBK2) T I 1062 rs55833708 Benign
45714 Q6IQ55 (TTBK2) T M 1084 rs34348991 Benign
45715 Q6IQ55 (TTBK2) V A 1097 rs55796513 Benign
45716 Q6IQ55 (TTBK2) P R 1122 rs56142516 Benign
45717 Q6IQ55 (TTBK2) K T 1241 rs36104367 Benign
45718 Q6ISB3 (GRHL2) Y H 398 rs587777737 Disease: Ectodermal dysplasia/sh ort stature syndrome (ECTDS) [MIM:616029]
45719 Q6ISB3 (GRHL2) V I 415 rs3779617 Benign
45720 Q6ISB3 (GRHL2) I K 482 rs587777738 Disease: Ectodermal dysplasia/sh ort stature syndrome (ECTDS) [MIM:616029]
45721 Q6ISS4 (LAIR2) G S 78 rs36121405 Benign
45722 Q6ISS4 (LAIR2) H R 87 rs34423078 Benign
45723 Q6ISS4 (LAIR2) F Y 115 rs34429135 Benign
45724 Q6ISU1 (PTCRA) V I 106 rs9471966 Benign
45725 Q6ISU1 (PTCRA) A T 183 rs36111725 Benign
45726 Q6IV72 (ZNF425) D V 166 rs6965052 Benign
45727 Q6IWH7 (ANO7) V I 67 rs2302054 Benign
45728 Q6IWH7 (ANO7) E K 912 rs7590653 Benign
45729 Q6J4K2 (SLC8B1) R C 222 rs16942745 Benign
45730 Q6J4K2 (SLC8B1) L F 358 rs3764034 Benign
45731 Q6J9G0 (STYK1) R G 71 rs6650202 Benign
45732 Q6J9G0 (STYK1) S G 204 rs3759259 Benign
45733 Q6J9G0 (STYK1) R W 210 rs34981955 Benign
45734 Q6J9G0 (STYK1) L S 237 rs55877878 Benign
45735 Q6J9G0 (STYK1) R H 379 rs34638573 Benign
45736 Q6J9G0 (STYK1) V L 400 rs55766125 Benign
45737 Q6JBY9 (RCSD1) Q R 384 rs34699420 Benign
45738 Q6JEL2 (KLHL10) Q P 216 rs116420871 Disease: Spermatogeni c failure 11 (SPGF11) [MIM:615081]
45739 Q6JEL2 (KLHL10) A T 313 rs370756367 Disease: Spermatogeni c failure 11 (SPGF11) [MIM:615081]
45740 Q6JQN1 (ACAD10) Q R 200 rs35276160 Benign
45741 Q6JQN1 (ACAD10) T P 216 rs35753710 Benign
45742 Q6JQN1 (ACAD10) D N 463 rs36046440 Benign
45743 Q6JQN1 (ACAD10) A V 880 rs34245489 Benign
45744 Q6KB66 (KRT80) V I 238 rs35725856 Benign
45745 Q6KC79 (NIPBL) G R 15 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45746 Q6KC79 (NIPBL) P Q 29 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45747 Q6KC79 (NIPBL) N I 70 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45748 Q6KC79 (NIPBL) S T 111 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45749 Q6KC79 (NIPBL) S N 135 rs3822471 Benign
45750 Q6KC79 (NIPBL) A S 179 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45751 Q6KC79 (NIPBL) A T 179 rs142923613 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45752 Q6KC79 (NIPBL) P L 192 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45753 Q6KC79 (NIPBL) D G 246 rs587784042 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45754 Q6KC79 (NIPBL) L V 254 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45755 Q6KC79 (NIPBL) S A 261 rs16903425 Benign
45756 Q6KC79 (NIPBL) P T 351 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45757 Q6KC79 (NIPBL) K N 357 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45758 Q6KC79 (NIPBL) N S 384 rs2291703 Benign
45759 Q6KC79 (NIPBL) N S 674 rs3822471 Benign
45760 Q6KC79 (NIPBL) R Q 868 rs149629686 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45761 Q6KC79 (NIPBL) I V 1206 rs587783929 Benign
45762 Q6KC79 (NIPBL) E K 1207 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45763 Q6KC79 (NIPBL) A G 1246 rs121918268 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45764 Q6KC79 (NIPBL) C R 1311 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45765 Q6KC79 (NIPBL) L P 1312 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45766 Q6KC79 (NIPBL) H P 1343 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45767 Q6KC79 (NIPBL) L R 1348 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45768 Q6KC79 (NIPBL) V L 1441 rs727503769 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45769 Q6KC79 (NIPBL) V F 1625 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45770 Q6KC79 (NIPBL) I L 1637 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45771 Q6KC79 (NIPBL) N H 1722 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45772 Q6KC79 (NIPBL) R L 1789 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45773 Q6KC79 (NIPBL) D V 1803 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45774 Q6KC79 (NIPBL) R T 1856 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45775 Q6KC79 (NIPBL) G A 2081 rs587784000 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45776 Q6KC79 (NIPBL) S I 2090 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45777 Q6KC79 (NIPBL) C F 2091 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45778 Q6KC79 (NIPBL) L P 2150 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45779 Q6KC79 (NIPBL) R C 2298 rs80358376 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45780 Q6KC79 (NIPBL) R H 2298 rs587784024 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45781 Q6KC79 (NIPBL) G R 2312 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45782 Q6KC79 (NIPBL) G V 2312 rs587784025 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45783 Q6KC79 (NIPBL) G A 2381 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45784 Q6KC79 (NIPBL) A T 2390 rs587784036 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45785 Q6KC79 (NIPBL) Y C 2430 rs121918265 Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45786 Q6KC79 (NIPBL) D N 2433 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45787 Q6KC79 (NIPBL) Y H 2440 - Disease: Cornelia de Lange syndrome 1 (CDLS1) [MIM:122470]
45788 Q6KF10 (GDF6) G V 42 rs121909354 Disease: Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
45789 Q6KF10 (GDF6) D H 57 rs397514725 Disease: Leber congenital amaurosis 17 (LCA17) [MIM:615360]
45790 Q6KF10 (GDF6) K E 110 rs2245091 Benign
45791 Q6KF10 (GDF6) Q R 119 rs140579014 Disease: Microphthalm ia, isolated, 4 (MCOP4) [MIM:613094]
45792 Q6KF10 (GDF6) A T 199 rs387906794 Disease: Leber congenital amaurosis 17 (LCA17) [MIM:615360]
45793 Q6KF10 (GDF6) D G 216 - Disease: Microphthalm ia, isolated, 4 (MCOP4) [MIM:613094]
45794 Q6KF10 (GDF6) A E 249 rs121909352 Disease: Microphthalm ia, isolated, 4 (MCOP4) [MIM:613094]
45795 Q6KF10 (GDF6) Q L 253 rs121909355 Disease: Microphthalm ia, isolated, 4 (MCOP4) [MIM:613094]
45796 Q6KF10 (GDF6) L P 289 rs63751220 Disease: Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
45797 Q6KF10 (GDF6) E D 292 rs1401531865 Disease: Leber congenital amaurosis 17 (LCA17) [MIM:615360]
45798 Q6KF10 (GDF6) P H 327 rs121909356 Disease: Microphthalm ia, isolated, 4 (MCOP4) [MIM:613094]
45799 Q6KF10 (GDF6) K R 424 rs121909353 Disease: Klippel-Feil syndrome 1, autosomal dominant (KFS1) [MIM:118100]
45800 Q6KF10 (GDF6) Y N 444 rs1554571213 Disease: Multiple synostoses syndrome 4 (SYNS4) [MIM:617898]
45801 Q6L8G9 (KRTAP5-6) C F 6 rs58645950 Benign
45802 Q6L8H2 (KRTAP5-3) G S 27 rs7129002 Benign
45803 Q6L8H2 (KRTAP5-3) Y C 28 rs7108370 Benign
45804 Q6L8H2 (KRTAP5-3) C S 73 rs7125831 Benign
45805 Q6L8H2 (KRTAP5-3) G V 76 rs7125826 Benign
45806 Q6L8H2 (KRTAP5-3) S C 83 rs7113784 Benign
45807 Q6L8Q7 (PDE12) R W 23 rs2241988 Benign
45808 Q6L9W6 (B4GALNT3) G S 59 rs2075033 Benign
45809 Q6L9W6 (B4GALNT3) R Q 265 rs11063529 Benign
45810 Q6L9W6 (B4GALNT3) K R 411 rs7298766 Benign
45811 Q6L9W6 (B4GALNT3) R Q 768 rs11063570 Benign
45812 Q6L9W6 (B4GALNT3) R H 992 rs36078145 Benign
45813 Q6MZM0 (HEPHL1) N D 251 rs1945783 Benign
45814 Q6MZM0 (HEPHL1) A T 355 - Disease: Abnormal hair, joint laxity, and developmenta l delay (HJDD) [MIM:261990]
45815 Q6MZM0 (HEPHL1) R C 381 rs12291622 Benign
45816 Q6MZM0 (HEPHL1) M T 1059 - Disease: Abnormal hair, joint laxity, and developmenta l delay (HJDD) [MIM:261990]
45817 Q6MZM9 (PRR27) I L 44 rs1612460 Benign
45818 Q6MZM9 (PRR27) R C 91 rs1613461 Benign
45819 Q6MZN7 (HCP5) W R 32 rs17206855 Benign
45820 Q6MZN7 (HCP5) W C 82 rs2255221 Benign
45821 Q6MZN7 (HCP5) G E 93 rs2255223 Benign
45822 Q6MZN7 (HCP5) V G 112 rs2395029 Benign
45823 Q6MZN7 (HCP5) H R 123 rs3130907 Benign
45824 Q6MZQ0 (PRR5L) A T 41 rs330261 Benign
45825 Q6MZQ0 (PRR5L) P S 330 rs11033639 Benign
45826 Q6MZT1 (RGS7BP) I V 255 rs889248 Benign
45827 Q6MZW2 (FSTL4) R H 158 rs17683306 Benign
45828 Q6MZW2 (FSTL4) T M 757 rs3749817 Benign
45829 Q6MZZ7 (CAPN13) H Y 249 rs17010210 Benign
45830 Q6MZZ7 (CAPN13) A T 280 rs508405 Benign
45831 Q6MZZ7 (CAPN13) I T 596 rs2276568 Benign
45832 Q6N021 (TET2) P R 29 rs12498609 Benign
45833 Q6N021 (TET2) L F 34 rs111948941 Benign
45834 Q6N021 (TET2) R H 123 rs773565437 Benign
45835 Q6N021 (TET2) P H 174 rs146031219 Benign
45836 Q6N021 (TET2) V M 218 rs6843141 Benign
45837 Q6N021 (TET2) G D 355 rs61744960 Benign
45838 Q6N021 (TET2) P L 363 rs17253672 Benign
45839 Q6N021 (TET2) G R 429 rs201642693 Benign
45840 Q6N021 (TET2) S T 817 rs753786455 Benign
45841 Q6N021 (TET2) Y H 867 rs144386291 Benign
45842 Q6N021 (TET2) A G 912 rs4145756 Benign
45843 Q6N021 (TET2) H R 924 rs34485921 Benign
45844 Q6N021 (TET2) H R 949 rs778464072 Benign
45845 Q6N021 (TET2) E V 1073 - Benign
45846 Q6N021 (TET2) Q P 1084 rs75056899 Benign
45847 Q6N021 (TET2) C Y 1135 rs769422572 Benign
45848 Q6N021 (TET2) R W 1214 rs761811530 Benign
45849 Q6N021 (TET2) R C 1261 rs898441677 Benign
45850 Q6N021 (TET2) M I 1701 rs62623390 Benign
45851 Q6N021 (TET2) V L 1718 rs142312318 Benign
45852 Q6N021 (TET2) L W 1721 rs34402524 Benign
45853 Q6N021 (TET2) P S 1723 rs146348065 Benign
45854 Q6N021 (TET2) I V 1762 rs2454206 Benign
45855 Q6N021 (TET2) H R 1778 rs62621450 Benign
45856 Q6N021 (TET2) G W 1869 rs1453845082 Benign
45857 Q6N021 (TET2) H R 1881 rs1417392445 Benign
45858 Q6N021 (TET2) V A 1900 - Benign
45859 Q6N021 (TET2) A V 1919 rs1163887807 Benign
45860 Q6N021 (TET2) P L 1962 rs200971953 Benign
45861 Q6N021 (TET2) R K 2000 - Benign
45862 Q6N022 (TENM4) R Q 14 rs58537389 Benign
45863 Q6N022 (TENM4) V I 396 rs3812723 Benign
45864 Q6N022 (TENM4) E Q 506 rs17137261 Benign
45865 Q6N022 (TENM4) V M 1138 rs538881762 Disease: Tremor, hereditary essential 5 (ETM5) [MIM:616736]
45866 Q6N022 (TENM4) T N 1367 rs763485258 Disease: Tremor, hereditary essential 5 (ETM5) [MIM:616736]
45867 Q6N022 (TENM4) A T 1442 rs375681722 Disease: Tremor, hereditary essential 5 (ETM5) [MIM:616736]
45868 Q6N043 (ZNF280D) V I 568 rs28620278 Benign
45869 Q6N043 (ZNF280D) A V 778 rs12900993 Benign
45870 Q6N043 (ZNF280D) K I 781 rs12901843 Benign
45871 Q6N043 (ZNF280D) G A 785 rs12900729 Benign
45872 Q6N069 (NAA16) E G 344 rs17062054 Benign
45873 Q6NS38 (ALKBH2) R H 203 rs33962311 Benign
45874 Q6NSI1 (ANKRD26P1) K T 265 rs1436436 Benign
45875 Q6NSI4 (RADX) I M 593 rs5962707 Benign
45876 Q6NSJ0 (MYORG) N I 4 rs2297776 Benign
45877 Q6NSJ0 (MYORG) M V 35 rs765483979 Disease: Basal ganglia calcificatio n, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
45878 Q6NSJ0 (MYORG) D E 53 rs4879781 Benign
45879 Q6NSJ0 (MYORG) R S 199 rs12377 Benign
45880 Q6NSJ0 (MYORG) F Y 385 rs7852399 Benign
45881 Q6NSJ0 (MYORG) R G 441 rs749427106 Disease: Basal ganglia calcificatio n, idiopathic, 7, autosomal recessive (IBGC7) [MIM:618317]
45882 Q6NSJ2 (PHLDB3) Q R 239 rs11083711 Benign
45883 Q6NSJ5 (LRRC8E) P L 160 rs3745377 Benign
45884 Q6NSJ5 (LRRC8E) E G 181 rs2042919 Benign
45885 Q6NSJ5 (LRRC8E) M T 190 rs2115108 Benign
45886 Q6NSJ5 (LRRC8E) V I 433 rs36038711 Benign
45887 Q6NSW7 (NANOGP8) C R 13 - Benign
45888 Q6NSW7 (NANOGP8) E A 16 rs2004079 Benign
45889 Q6NSW7 (NANOGP8) S P 37 - Benign
45890 Q6NSW7 (NANOGP8) D Y 64 rs2257251 Benign
45891 Q6NSW7 (NANOGP8) S Y 68 rs146363687 Benign
45892 Q6NSW7 (NANOGP8) Q R 96 - Benign
45893 Q6NSW7 (NANOGP8) L P 107 rs1012377776 Benign
45894 Q6NSW7 (NANOGP8) E G 127 - Benign
45895 Q6NSW7 (NANOGP8) Q R 146 - Benign
45896 Q6NSW7 (NANOGP8) S G 207 - Benign
45897 Q6NSW7 (NANOGP8) N S 208 - Benign
45898 Q6NSW7 (NANOGP8) T I 210 rs9944179 Benign
45899 Q6NSW7 (NANOGP8) N S 218 - Benign
45900 Q6NSW7 (NANOGP8) D G 262 rs1326719179 Benign
45901 Q6NSW7 (NANOGP8) Q R 301 - Benign
45902 Q6NSX1 (CCDC70) R C 126 rs17076052 Benign
45903 Q6NSX1 (CCDC70) I V 206 rs1054515 Benign
45904 Q6NSZ9 (ZSCAN25) P A 325 rs10239632 Benign
45905 Q6NT16 (SLC18B1) R L 11 rs59989552 Benign
45906 Q6NT16 (SLC18B1) S P 30 rs41286192 Benign
45907 Q6NT16 (SLC18B1) V I 204 rs6926101 Benign
45908 Q6NT32 (CES5A) R Q 71 rs2397965 Benign
45909 Q6NT32 (CES5A) E K 261 rs11076126 Benign
45910 Q6NT32 (CES5A) H Q 344 rs11860946 Benign
45911 Q6NT32 (CES5A) G R 499 rs16955812 Benign
45912 Q6NT32 (CES5A) D E 537 rs11860456 Benign
45913 Q6NT55 (CYP4F22) F L 59 rs118091316 Disease: Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
45914 Q6NT55 (CYP4F22) S C 178 rs16980531 Benign
45915 Q6NT55 (CYP4F22) R H 243 rs118203937 Disease: Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
45916 Q6NT55 (CYP4F22) R W 372 rs201129618 Disease: Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
45917 Q6NT55 (CYP4F22) H Y 435 rs118203935 Disease: Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
45918 Q6NT55 (CYP4F22) H D 436 rs118203936 Disease: Ichthyosis, congenital, autosomal recessive 5 (ARCI5) [MIM:604777]
45919 Q6NT55 (CYP4F22) K Q 505 rs7256787 Benign
45920 Q6NT89 (TRNP1) W R 27 rs6689941 Benign
45921 Q6NTE8 (MRNIP) Q R 42 rs1650893 Benign
45922 Q6NTE8 (MRNIP) Q R 97 rs1650893 Benign
45923 Q6NTE8 (MRNIP) R G 154 rs248248 Benign
45924 Q6NTE8 (MRNIP) Q R 231 rs10277 Benign
45925 Q6NTF7 (APOBEC3H) R L 18 rs139293 Benign
45926 Q6NTF7 (APOBEC3H) G R 105 rs139297 Benign
45927 Q6NTF7 (APOBEC3H) K E 121 rs139298 Benign
45928 Q6NTF7 (APOBEC3H) K N 121 rs139299 Benign
45929 Q6NTF7 (APOBEC3H) E K 140 rs139300 Benign
45930 Q6NTF7 (APOBEC3H) E D 178 rs139302 Benign
45931 Q6NTF9 (RHBDD2) R H 85 rs11547498 Benign
45932 Q6NUI1 (CCDC144NL) G D 82 rs7216787 Benign
45933 Q6NUI6 (CHADL) Q R 710 rs9619955 Benign
45934 Q6NUI6 (CHADL) D N 721 rs9619954 Benign
45935 Q6NUJ1 (PSAPL1) A S 41 rs11548325 Benign
45936 Q6NUJ1 (PSAPL1) G R 44 rs58482081 Benign
45937 Q6NUJ1 (PSAPL1) A T 59 rs56737582 Benign
45938 Q6NUJ1 (PSAPL1) A S 268 rs3796905 Benign
45939 Q6NUJ1 (PSAPL1) V M 296 rs6850206 Benign
45940 Q6NUJ5 (PWWP2B) R C 89 rs11146363 Benign
45941 Q6NUJ5 (PWWP2B) R G 98 rs10747057 Benign
45942 Q6NUK1 (SLC25A24) R C 217 rs1553253990 Disease: Fontaine progeroid syndrome (FPS) [MIM:612289]
45943 Q6NUK1 (SLC25A24) R H 217 rs1553253989 Disease: Fontaine progeroid syndrome (FPS) [MIM:612289]
45944 Q6NUK4 (REEP3) Q R 171 rs10995569 Benign
45945 Q6NUM9 (RETSAT) A V 533 rs4832169 Benign
45946 Q6NUM9 (RETSAT) G R 536 rs4832168 Benign
45947 Q6NUM9 (RETSAT) P T 559 rs13384912 Benign
45948 Q6NUN0 (ACSM5) R Q 65 rs9928053 Benign
45949 Q6NUN0 (ACSM5) Q H 159 rs559741756 Benign
45950 Q6NUN0 (ACSM5) E K 182 rs7192210 Benign
45951 Q6NUN0 (ACSM5) M V 217 rs59025904 Benign
45952 Q6NUN0 (ACSM5) P R 352 rs8062344 Benign
45953 Q6NUN0 (ACSM5) H R 360 rs12931877 Benign
45954 Q6NUN0 (ACSM5) T M 533 rs554734865 Benign
45955 Q6NUN7 (JHY) H R 486 rs33999612 Benign
45956 Q6NUQ1 (RINT1) S C 40 rs11556986 Benign
45957 Q6NUQ1 (RINT1) A T 368 - Disease: Infantile liver failure syndrome 3 (ILFS3) [MIM:618641]
45958 Q6NUQ1 (RINT1) L P 370 - Disease: Infantile liver failure syndrome 3 (ILFS3) [MIM:618641]
45959 Q6NUQ1 (RINT1) F S 668 rs35971380 Benign
45960 Q6NUQ1 (RINT1) P L 759 rs34310648 Benign
45961 Q6NUQ4 (TMEM214) V M 351 rs1124649 Benign
45962 Q6NUS6 (TCTN3) G R 314 rs793888508 Disease: Joubert syndrome 18 (JBTS18) [MIM:614815]
45963 Q6NUS8 (UGT3A1) C G 121 rs3756669 Benign
45964 Q6NUT2 (DPY19L2) M V 37 rs10878075 Benign
45965 Q6NUT2 (DPY19L2) A V 41 rs10878074 Benign
45966 Q6NUT2 (DPY19L2) S A 51 rs10878073 Benign
45967 Q6NUT2 (DPY19L2) V I 757 rs12314553 Benign
45968 Q6NUT3 (MFSD12) Y H 182 rs2240751 Benign
45969 Q6NUT3 (MFSD12) I V 203 rs34562175 Benign
45970 Q6NUT3 (MFSD12) R H 243 rs10414812 Benign
45971 Q6NUT3 (MFSD12) G S 395 rs34878396 Benign
45972 Q6NUT3 (MFSD12) R C 476 rs7252640 Benign
45973 Q6NV74 (CRACDL) S C 315 rs3731660 Benign
45974 Q6NV75 (GPR153) R H 209 rs12735670 Benign
45975 Q6NVH7 (SWSAP1) D G 171 rs317926 Benign
45976 Q6NVU6 (UFSP1) L V 47 rs12666989 Benign
45977 Q6NVV3 (NIPAL1) I V 324 rs13116684 Benign
45978 Q6NVV7 (CDPF1) V A 5 rs9627281 Benign
45979 Q6NVV7 (CDPF1) L R 70 rs55641018 Benign
45980 Q6NVY1 (HIBCH) T A 46 rs1058180 Benign
45981 Q6NVY1 (HIBCH) Y C 122 rs121918329 Disease: 3-hydroxyiso butryl-CoA hydrolase deficiency (HIBCHD) [MIM:250620]
45982 Q6NW29 (RWDD4) I L 124 rs10015804 Benign
45983 Q6NW34 (NEPRO) E K 101 rs2291465 Benign
45984 Q6NW34 (NEPRO) P S 352 rs2306858 Benign
45985 Q6NW34 (NEPRO) F I 357 rs2306857 Benign
45986 Q6NW34 (NEPRO) T A 476 rs3732813 Benign
45987 Q6NW34 (NEPRO) S P 490 rs7628368 Benign
45988 Q6NX45 (ZNF774) P L 65 rs16944267 Benign
45989 Q6NX45 (ZNF774) N S 83 rs2589957 Benign
45990 Q6NX45 (ZNF774) V I 147 rs11854320 Benign
45991 Q6NX49 (ZNF544) H D 203 rs6510130 Benign
45992 Q6NX49 (ZNF544) Q R 700 rs260462 Benign
45993 Q6NXG1 (ESRP1) Y C 196 rs2303454 Benign
45994 Q6NXG1 (ESRP1) L V 259 rs1554577402 Disease: Deafness, autosomal recessive, 109 (DFNB109) [MIM:618013]
45995 Q6NXP0 (EFCAB12) P L 36 rs58932597 Benign
45996 Q6NXP0 (EFCAB12) E G 66 rs3774787 Benign
45997 Q6NXP0 (EFCAB12) R G 215 rs6790768 Benign
45998 Q6NXP0 (EFCAB12) H R 280 rs9836111 Benign
45999 Q6NXP0 (EFCAB12) P S 541 rs12637267 Benign
46000 Q6NXP2 (FAM71F2) P T 112 rs17169357 Benign
46001 Q6NXP2 (FAM71F2) D V 114 rs6971819 Benign
46002 Q6NXP2 (FAM71F2) R W 136 rs6467210 Benign
46003 Q6NXP2 (FAM71F2) I V 251 rs1109552 Benign
46004 Q6NXR0 (IRGC) D N 135 rs11555891 Benign
46005 Q6NXR4 (TTI2) E G 63 rs2304748 Benign
46006 Q6NXR4 (TTI2) L R 425 rs3736497 Benign
46007 Q6NXR4 (TTI2) I N 436 rs398122367 Disease: Mental retardation, autosomal recessive 39 (MRT39) [MIM:615541]
46008 Q6NXT2 (H3-5) H R 39 rs3759295 Benign
46009 Q6NXT6 (TAPT1) D V 353 rs869312980 Disease: Osteochondro dysplasia, complex lethal, Symoens- Barnes- Gistelinck type (OCLSBG) [MIM:616897]
46010 Q6NXT6 (TAPT1) E K 465 rs35606284 Benign
46011 Q6NXT6 (TAPT1) N S 522 rs16893137 Benign
46012 Q6NY19 (KANK3) D Y 288 rs890850 Benign
46013 Q6NY19 (KANK3) R H 359 rs890853 Benign
46014 Q6NY19 (KANK3) A T 485 rs2913955 Benign
46015 Q6NYC8 (PPP1R18) R G 222 rs9262144 Benign
46016 Q6NYC8 (PPP1R18) G R 339 rs9262143 Benign
46017 Q6NYC8 (PPP1R18) P L 356 rs2213944 Benign
46018 Q6NZ36 (FAAP20) P S 126 rs1058411 Benign
46019 Q6NZ63 (STEAP1B) I V 7 rs7787814 Benign
46020 Q6NZ63 (STEAP1B) Q R 29 rs16881810 Benign
46021 Q6NZ63 (STEAP1B) R M 166 rs16881812 Benign
46022 Q6NZ63 (STEAP1B) I T 210 rs16881817 Benign
46023 Q6NZ67 (MZT2B) A V 118 rs1043059 Benign
46024 Q6NZ67 (MZT2B) R Q 155 rs1043152 Benign
46025 Q6NZI2 (CAVIN1) E Q 193 rs35308568 Benign
46026 Q6NZY4 (ZCCHC8) P L 186 - Disease: Pulmonary fibrosis, and/or bone marrow failure, telomere- related, 5 (PFBMFT5) [MIM:618674]
46027 Q6NZY4 (ZCCHC8) P A 672 rs1063155 Benign
46028 Q6P047 (C8orf74) L F 15 rs11250058 Benign
46029 Q6P047 (C8orf74) I V 222 rs57041981 Benign
46030 Q6P050 (FBXL22) V L 115 rs8035931 Benign
46031 Q6P087 (RPUSD3) D H 34 rs17855991 Benign
46032 Q6P087 (RPUSD3) A P 173 rs34244989 Benign
46033 Q6P087 (RPUSD3) A P 181 rs34244989 Benign
46034 Q6P093 (AADACL2) A S 186 rs1972977 Benign
46035 Q6P093 (AADACL2) L I 343 rs1052562 Benign
46036 Q6P0A1 (FAM180B) A T 145 rs4486587 Benign
46037 Q6P0N0 (MIS18BP1) C R 164 rs1269008 Benign
46038 Q6P0N0 (MIS18BP1) P R 347 rs34168608 Benign
46039 Q6P0N0 (MIS18BP1) E D 583 rs34101857 Benign
46040 Q6P0N0 (MIS18BP1) E Q 851 rs34402741 Benign
46041 Q6P0Q8 (MAST2) L F 69 rs55914403 Benign
46042 Q6P0Q8 (MAST2) D E 388 rs11211247 Benign
46043 Q6P0Q8 (MAST2) I M 659 rs1707336 Benign
46044 Q6P0Q8 (MAST2) R L 991 rs56114653 Benign
46045 Q6P0Q8 (MAST2) K R 1197 rs1052607 Benign
46046 Q6P0Q8 (MAST2) D E 1221 rs56060730 Benign
46047 Q6P0Q8 (MAST2) R L 1246 rs56309943 Benign
46048 Q6P0Q8 (MAST2) V M 1304 rs33931638 Benign
46049 Q6P0Q8 (MAST2) A T 1463 rs3737738 Benign
46050 Q6P0Q8 (MAST2) G A 1468 rs3737737 Benign
46051 Q6P0Q8 (MAST2) D G 1551 rs1052610 Benign
46052 Q6P0Q8 (MAST2) T I 1608 rs35474583 Benign
46053 Q6P0Q8 (MAST2) K R 1673 rs34070850 Benign
46054 Q6P0Q8 (MAST2) G E 1703 - Benign
46055 Q6P158 (DHX57) S F 410 rs11893062 Benign
46056 Q6P158 (DHX57) S G 433 rs35371077 Benign
46057 Q6P158 (DHX57) N S 587 rs7598922 Benign
46058 Q6P179 (ERAP2) P L 214 rs3733905 Benign
46059 Q6P179 (ERAP2) K N 392 rs2549782 Benign
46060 Q6P179 (ERAP2) L R 411 rs34261036 Benign
46061 Q6P179 (ERAP2) L Q 669 rs17408150 Benign
46062 Q6P1A2 (LPCAT3) F L 63 rs34196984 Benign
46063 Q6P1A2 (LPCAT3) I T 217 rs1984564 Benign
46064 Q6P1J6 (PLB1) V L 212 rs6753929 Benign
46065 Q6P1J6 (PLB1) M V 708 rs11681826 Benign
46066 Q6P1J6 (PLB1) G R 821 rs10201128 Benign
46067 Q6P1J6 (PLB1) H D 879 rs7601771 Benign
46068 Q6P1J6 (PLB1) A V 987 rs34289907 Benign
46069 Q6P1J6 (PLB1) A V 1318 rs2199619 Benign
46070 Q6P1J9 (CDC73) L P 64 rs121434264 Disease: Hyperparathy roidism 1 (HRPT1) [MIM:145000]
46071 Q6P1J9 (CDC73) N S 272 rs752383339 Benign
46072 Q6P1J9 (CDC73) D N 379 rs971586985 Disease: Hyperparathy roidism 2 with jaw tumors (HRPT2) [MIM:145001]
46073 Q6P1J9 (CDC73) L P 384 rs35590728 Benign
46074 Q6P1K2 (PMF1) Q R 75 rs1052053 Benign
46075 Q6P1K2 (PMF1) M I 137 rs1052067 Benign
46076 Q6P1L6 (ZNF343) P L 520 rs6049415 Benign
46077 Q6P1M0 (SLC27A4) A T 92 rs137853132 Disease: Ichthyosis prematurity syndrome (IPS) [MIM:608649]
46078 Q6P1M0 (SLC27A4) G S 209 rs2240953 Benign
46079 Q6P1M0 (SLC27A4) S P 247 rs137853133 Disease: Ichthyosis prematurity syndrome (IPS) [MIM:608649]
46080 Q6P1M0 (SLC27A4) Q R 300 rs137853134 Disease: Ichthyosis prematurity syndrome (IPS) [MIM:608649]
46081 Q6P1M0 (SLC27A4) R C 374 rs768495407 Disease: Ichthyosis prematurity syndrome (IPS) [MIM:608649]
46082 Q6P1M0 (SLC27A4) R H 583 rs137853135 Disease: Ichthyosis prematurity syndrome (IPS) [MIM:608649]
46083 Q6P1M3 (LLGL2) R H 45 rs1671036 Benign
46084 Q6P1M3 (LLGL2) F L 479 rs1671021 Benign
46085 Q6P1M3 (LLGL2) P L 488 rs35991442 Benign
46086 Q6P1M3 (LLGL2) L P 490 rs1671021 Benign
46087 Q6P1M3 (LLGL2) R H 748 rs35474687 Benign
46088 Q6P1M3 (LLGL2) P S 759 rs1661715 Benign
46089 Q6P1M3 (LLGL2) P L 790 rs1661714 Benign
46090 Q6P1M3 (LLGL2) G S 1001 rs35886912 Benign
46091 Q6P1N0 (CC2D1A) T P 339 rs11883041 Benign
46092 Q6P1N0 (CC2D1A) T S 635 rs2290663 Benign
46093 Q6P1N0 (CC2D1A) T M 801 rs2305777 Benign
46094 Q6P1Q0 (LETMD1) V I 84 rs12379 Benign
46095 Q6P1Q9 (METTL2B) V I 68 rs2288557 Benign
46096 Q6P1Q9 (METTL2B) C R 124 rs2896399 Benign
46097 Q6P1Q9 (METTL2B) N H 129 rs2023329 Benign
46098 Q6P1Q9 (METTL2B) E K 169 rs1065267 Benign
46099 Q6P1Q9 (METTL2B) V I 266 rs2562741 Benign
46100 Q6P1S2 (C3orf33) A T 47 rs9853408 Benign
46101 Q6P1S2 (C3orf33) S N 160 rs358733 Benign
46102 Q6P1W5 (C1orf94) Q E 235 rs1382602 Benign
46103 Q6P1W5 (C1orf94) D E 302 rs1414474 Benign
46104 Q6P1W5 (C1orf94) Y H 438 rs17556981 Benign
46105 Q6P1X5 (TAF2) P L 8 rs17818842 Benign
46106 Q6P1X5 (TAF2) S T 447 rs9297605 Benign
46107 Q6P1X5 (TAF2) W R 649 rs398124645 Disease: Mental retardation, autosomal recessive 40 (MRT40) [MIM:615599]
46108 Q6P1X5 (TAF2) E K 686 rs34154779 Benign
46109 Q6P1X5 (TAF2) S N 1122 rs956749 Benign
46110 Q6P1X5 (TAF2) T A 1139 rs956748 Benign
46111 Q6P280 (ZNF529) L V 131 rs2912444 Benign
46112 Q6P2C0 (WDR93) L H 66 rs4287542 Benign
46113 Q6P2C0 (WDR93) S T 254 rs7163367 Benign
46114 Q6P2C0 (WDR93) T M 352 rs7178234 Benign
46115 Q6P2D8 (XRRA1) T R 473 rs4944960 Benign
46116 Q6P2D8 (XRRA1) K E 480 rs12291445 Benign
46117 Q6P2H3 (CEP85) R H 48 rs35831900 Benign
46118 Q6P2H3 (CEP85) S N 213 rs3795686 Benign
46119 Q6P2H3 (CEP85) A T 542 rs7550997 Benign
46120 Q6P2H3 (CEP85) Q H 668 rs36013141 Benign
46121 Q6P2M8 (PNCK) Q H 262 rs56060609 Benign
46122 Q6P2P2 (PRMT9) S G 483 rs17023638 Benign
46123 Q6P2P2 (PRMT9) C Y 747 rs11557361 Benign
46124 Q6P2Q9 (PRPF8) K E 68 rs1043391 Benign
46125 Q6P2Q9 (PRPF8) R H 227 rs11559304 Benign
46126 Q6P2Q9 (PRPF8) P L 874 rs1043396 Benign
46127 Q6P2Q9 (PRPF8) N H 1293 rs1043399 Benign
46128 Q6P2Q9 (PRPF8) P T 2301 rs121434239 Disease: Retinitis pigmentosa 13 (RP13) [MIM:600059]
46129 Q6P2Q9 (PRPF8) F L 2304 rs121434240 Disease: Retinitis pigmentosa 13 (RP13) [MIM:600059]
46130 Q6P2Q9 (PRPF8) H P 2309 rs121434236 Disease: Retinitis pigmentosa 13 (RP13) [MIM:600059]
46131 Q6P2Q9 (PRPF8) H R 2309 rs121434236 Disease: Retinitis pigmentosa 13 (RP13) [MIM:600059]
46132 Q6P2Q9 (PRPF8) R G 2310 - Disease: Retinitis pigmentosa 13 (RP13) [MIM:600059]
46133 Q6P2Q9 (PRPF8) R K 2310 rs121434238 Disease: Retinitis pigmentosa 13 (RP13) [MIM:600059]
46134 Q6P2Q9 (PRPF8) F L 2314 - Disease: Retinitis pigmentosa 13 (RP13) [MIM:600059]
46135 Q6P2Q9 (PRPF8) Y N 2334 - Disease: Retinitis pigmentosa 13 (RP13) [MIM:600059]
46136 Q6P387 (C16orf46) T S 77 rs17855893 Benign
46137 Q6P387 (C16orf46) I T 288 rs7198494 Benign
46138 Q6P387 (C16orf46) Y H 335 rs10459872 Benign
46139 Q6P387 (C16orf46) K E 357 rs9930623 Benign
46140 Q6P387 (C16orf46) P S 388 rs12929250 Benign
46141 Q6P3R8 (NEK5) K Q 255 rs34756139 Benign
46142 Q6P3R8 (NEK5) R H 290 - Benign
46143 Q6P3R8 (NEK5) C R 531 - Benign
46144 Q6P3S1 (DENND1B) V M 216 rs7546381 Benign
46145 Q6P3S6 (FBXO42) P A 471 rs12069239 Benign
46146 Q6P3W7 (SCYL2) P L 357 rs33968174 Benign
46147 Q6P3W7 (SCYL2) T S 720 rs763873645 Benign
46148 Q6P3X3 (TTC27) Y C 476 rs2273660 Benign
46149 Q6P3X3 (TTC27) T M 498 rs34188947 Benign
46150 Q6P3X3 (TTC27) R H 525 rs2273664 Benign
46151 Q6P3X3 (TTC27) R H 586 rs17012268 Benign
46152 Q6P461 (ACSM6) E G 19 rs591157 Benign
46153 Q6P461 (ACSM6) C S 40 rs11188225 Benign
46154 Q6P461 (ACSM6) K R 227 rs7090248 Benign
46155 Q6P474 (PDXDC2P) M V 209 rs3169319 Benign
46156 Q6P474 (PDXDC2P) L F 429 rs11648231 Benign
46157 Q6P474 (PDXDC2P) L R 429 rs929843 Benign
46158 Q6P4A8 (PLBD1) V I 265 rs7957558 Benign
46159 Q6P4A8 (PLBD1) V A 377 rs2287541 Benign
46160 Q6P4A8 (PLBD1) P A 534 rs1600 Benign
46161 Q6P4F1 (FUT10) L F 59 rs16880994 Benign
46162 Q6P4F1 (FUT10) Y H 268 rs16880853 Benign
46163 Q6P4F1 (FUT10) L V 368 rs17855838 Benign
46164 Q6P4F1 (FUT10) R P 371 rs17855839 Benign
46165 Q6P4F2 (FDX2) P L 144 rs888630930 Disease: Mitochondria l myopathy, episodic, with optic atrophy and reversible leukoencepha lopathy (MEOAL) [MIM:251900]
46166 Q6P4H8 (ATPSCKMT) T M 75 rs2438652 Benign
46167 Q6P4H8 (ATPSCKMT) A V 105 rs16884350 Benign
46168 Q6P4H8 (ATPSCKMT) V A 114 rs17360625 Benign
46169 Q6P4H8 (ATPSCKMT) L M 229 rs15757 Benign
46170 Q6P4I2 (WDR73) R H 249 rs11073619 Benign
46171 Q6P4Q7 (CNNM4) G R 126 rs17855817 Benign
46172 Q6P4Q7 (CNNM4) S P 196 - Disease: Jalili syndrome (JALIS) [MIM:217080]
46173 Q6P4Q7 (CNNM4) S Y 200 rs79424354 Disease: Jalili syndrome (JALIS) [MIM:217080]
46174 Q6P4Q7 (CNNM4) R Q 236 rs75267011 Disease: Jalili syndrome (JALIS) [MIM:217080]
46175 Q6P4Q7 (CNNM4) L P 324 rs74552543 Disease: Jalili syndrome (JALIS) [MIM:217080]
46176 Q6P531 (GGT6) R W 40 rs7216284 Benign
46177 Q6P531 (GGT6) A V 58 rs11657054 Benign
46178 Q6P587 (FAHD1) D N 110 rs3743853 Benign
46179 Q6P5R6 (RPL22L1) V F 97 rs13462 Benign
46180 Q6P5S2 (LEG1) C G 308 rs9491833 Benign
46181 Q6P5W5 (SLC39A4) A E 22 rs2280839 Benign
46182 Q6P5W5 (SLC39A4) A T 58 rs2280838 Benign
46183 Q6P5W5 (SLC39A4) P L 84 rs117535951 Benign
46184 Q6P5W5 (SLC39A4) R C 95 rs121434292 Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46185 Q6P5W5 (SLC39A4) N K 106 rs121434290 Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46186 Q6P5W5 (SLC39A4) A T 114 rs17855765 Benign
46187 Q6P5W5 (SLC39A4) M T 158 rs886062750 Benign
46188 Q6P5W5 (SLC39A4) P L 200 rs121434287 Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46189 Q6P5W5 (SLC39A4) E K 284 rs7823979 Benign
46190 Q6P5W5 (SLC39A4) Q H 303 rs121434293 Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46191 Q6P5W5 (SLC39A4) G D 330 rs121434291 Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46192 Q6P5W5 (SLC39A4) T A 357 rs2272662 Benign
46193 Q6P5W5 (SLC39A4) V L 372 rs886062748 Benign
46194 Q6P5W5 (SLC39A4) V P 372 - Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46195 Q6P5W5 (SLC39A4) G R 374 rs121434289 Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46196 Q6P5W5 (SLC39A4) G R 526 rs121434288 Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46197 Q6P5W5 (SLC39A4) G R 630 - Disease: Acrodermatit is enteropathic a, zinc- deficiency type (AEZ) [MIM:201100]
46198 Q6P5Z2 (PKN3) A E 180 rs56251280 Benign
46199 Q6P5Z2 (PKN3) V L 404 rs12932 Benign
46200 Q6P656 (CFAP161) P S 284 rs2279997 Benign
46201 Q6P6B1 (ERICH5) R H 59 rs7833473 Benign
46202 Q6P6B1 (ERICH5) Q P 244 rs35368005 Benign
46203 Q6P6B1 (ERICH5) H R 287 rs11994440 Benign
46204 Q6P6B7 (ANKRD16) A G 128 rs2296136 Benign
46205 Q6P6B7 (ANKRD16) Q R 353 rs1052420 Benign
46206 Q6P7N7 (TMEM81) R Q 77 rs4951168 Benign
46207 Q6P7N7 (TMEM81) F S 100 rs16855059 Benign
46208 Q6P995 (FAM171B) V I 302 rs17855085 Benign
46209 Q6P996 (PDXDC1) P L 301 rs4985162 Benign
46210 Q6P9A1 (ZNF530) T A 64 rs9677004 Benign
46211 Q6P9A1 (ZNF530) H Q 110 rs2360543 Benign
46212 Q6P9A1 (ZNF530) S P 124 rs17855076 Benign
46213 Q6P9A1 (ZNF530) T M 169 rs11883343 Benign
46214 Q6P9A1 (ZNF530) G S 262 rs9676259 Benign
46215 Q6P9A3 (ZNF549) I N 8 rs12461014 Benign
46216 Q6P9B6 (MEAK7) R L 10 rs8046813 Benign
46217 Q6P9B6 (MEAK7) H Q 97 rs8055536 Benign
46218 Q6P9B6 (MEAK7) D E 172 rs436278 Benign
46219 Q6P9B6 (MEAK7) I V 220 rs431818 Benign
46220 Q6P9B6 (MEAK7) E D 233 rs34244563 Benign
46221 Q6P9B6 (MEAK7) C R 267 rs422145 Benign
46222 Q6P9B6 (MEAK7) S L 443 rs34628943 Benign
46223 Q6P9F0 (CCDC62) T M 141 rs58131754 Benign
46224 Q6P9F0 (CCDC62) T K 394 rs17855031 Benign
46225 Q6P9F5 (TRIM40) K Q 142 rs12528473 Benign
46226 Q6P9F5 (TRIM40) E K 215 rs757259 Benign
46227 Q6P9F5 (TRIM40) E K 244 rs757259 Benign
46228 Q6P9F7 (LRRC8B) D N 288 rs17131746 Benign
46229 Q6P9F7 (LRRC8B) Q K 419 rs17855025 Benign
46230 Q6P9F7 (LRRC8B) R H 469 rs3795832 Benign
46231 Q6P9F7 (LRRC8B) N S 689 rs12747447 Benign
46232 Q6P9G0 (CYB5D1) F L 20 rs12453250 Benign
46233 Q6P9G4 (TMEM154) S F 93 rs17855714 Benign
46234 Q6P9H5 (GIMAP6) V I 65 rs17173519 Benign
46235 Q6P9H5 (GIMAP6) G D 170 rs11974345 Benign
46236 Q6P9H5 (GIMAP6) G S 171 rs13234724 Benign
46237 Q6P9H5 (GIMAP6) Q R 237 rs11977216 Benign
46238 Q6PB30 (CSAG1) Y F 28 rs1894359 Benign
46239 Q6PB30 (CSAG1) R K 62 rs2515848 Benign
46240 Q6PCD5 (RFWD3) T N 90 rs8058922 Benign
46241 Q6PCD5 (RFWD3) R K 392 rs17854997 Benign
46242 Q6PCD5 (RFWD3) I V 564 rs7193541 Benign
46243 Q6PCD5 (RFWD3) I K 639 rs1555524842 Disease: Fanconi anemia, complementat ion group W (FANCW) [MIM:617784]
46244 Q6PCD5 (RFWD3) I T 770 rs17854996 Benign
46245 Q6PCE3 (PGM2L1) L P 14 rs12049823 Benign
46246 Q6PCE3 (PGM2L1) V I 531 rs592644 Benign
46247 Q6PCE3 (PGM2L1) N I 608 rs36014178 Benign
46248 Q6PD74 (AAGAB) I L 132 rs7173826 Benign
46249 Q6PEW0 (PRSS54) S G 182 rs3815803 Benign
46250 Q6PEW0 (PRSS54) V I 240 rs1052276 Benign
46251 Q6PEW0 (PRSS54) T A 295 rs2241414 Benign
46252 Q6PEW1 (ZCCHC12) R C 7 rs35356061 Benign
46253 Q6PEW1 (ZCCHC12) L I 179 rs17854957 Benign
46254 Q6PEW1 (ZCCHC12) R G 214 rs17853670 Benign
46255 Q6PEW1 (ZCCHC12) R T 241 rs140976011 Benign
46256 Q6PEX3 (KRTAP26-1) S Y 26 rs3804007 Benign
46257 Q6PEX3 (KRTAP26-1) P T 188 rs12483584 Benign
46258 Q6PEX7 (TEX38) D E 104 rs614486 Benign
46259 Q6PEX7 (TEX38) A V 199 rs1025806 Benign
46260 Q6PEY0 (GJB7) T I 20 rs4707358 Benign
46261 Q6PEY0 (GJB7) T M 177 rs41273281 Benign
46262 Q6PEY0 (GJB7) F L 206 rs6934603 Benign
46263 Q6PEY1 (TMEM88) L F 44 rs2270518 Benign
46264 Q6PEY2 (TUBA3E) S N 101 rs3863907 Benign
46265 Q6PEY2 (TUBA3E) A V 126 rs13000721 Benign
46266 Q6PEY2 (TUBA3E) S G 162 rs2261398 Benign
46267 Q6PEY2 (TUBA3E) W R 402 rs1052422 Benign
46268 Q6PEY2 (TUBA3E) A E 449 rs10208844 Benign
46269 Q6PEZ8 (PODNL1) R W 44 rs3745467 Benign
46270 Q6PF04 (ZNF613) D N 84 rs17854933 Benign
46271 Q6PF04 (ZNF613) K E 93 rs8106409 Benign
46272 Q6PF04 (ZNF613) I R 135 rs16983243 Benign
46273 Q6PF04 (ZNF613) S F 163 rs33998555 Benign
46274 Q6PF04 (ZNF613) D V 611 rs16983253 Benign
46275 Q6PF05 (TTC23L) H R 22 rs6451173 Benign
46276 Q6PF05 (TTC23L) K E 67 rs6866035 Benign
46277 Q6PF05 (TTC23L) T M 150 rs34566695 Benign
46278 Q6PF05 (TTC23L) N D 153 rs35769440 Benign
46279 Q6PF05 (TTC23L) K N 247 rs34702907 Benign
46280 Q6PF05 (TTC23L) R K 325 rs35665026 Benign
46281 Q6PF06 (TRMT10B) V G 234 rs36023446 Benign
46282 Q6PF06 (TRMT10B) V A 242 rs12337034 Benign
46283 Q6PG37 (ZNF790) Q R 301 rs3745775 Benign
46284 Q6PG37 (ZNF790) T S 486 rs4369791 Benign
46285 Q6PGN9 (PSRC1) R Q 312 rs34863121 Benign
46286 Q6PGP7 (TTC37) G R 251 rs763816083 Disease: Trichohepato enteric syndrome 1 (THES1) [MIM:222470]
46287 Q6PGP7 (TTC37) L V 437 rs17084873 Benign
46288 Q6PGP7 (TTC37) P A 1270 rs146627706 Benign
46289 Q6PGP7 (TTC37) D N 1283 - Disease: Trichohepato enteric syndrome 1 (THES1) [MIM:222470]
46290 Q6PGP7 (TTC37) R S 1296 rs2303650 Benign
46291 Q6PGP7 (TTC37) L S 1505 rs376720108 Disease: Trichohepato enteric syndrome 1 (THES1) [MIM:222470]
46292 Q6PGQ1 (DRICH1) I T 4 rs3827318 Benign
46293 Q6PGQ7 (BORA) S L 210 rs9543107 Benign
46294 Q6PGQ7 (BORA) S F 308 rs1146858 Benign
46295 Q6PHR2 (ULK3) R H 101 rs34945944 Benign
46296 Q6PHR2 (ULK3) K R 445 rs12898397 Benign
46297 Q6PHW0 (IYD) R W 101 rs121918138 Disease: Thyroid dyshormonoge nesis 4 (TDH4) [MIM:274800]
46298 Q6PHW0 (IYD) I T 116 rs121918139 Disease: Thyroid dyshormonoge nesis 4 (TDH4) [MIM:274800]
46299 Q6PHW0 (IYD) L P 260 rs17854906 Benign
46300 Q6PHW0 (IYD) E K 271 rs36063028 Benign
46301 Q6PI26 (SHQ1) S I 140 rs17855677 Benign
46302 Q6PI26 (SHQ1) S N 489 rs35178407 Benign
46303 Q6PI47 (KCTD18) A V 333 rs13018579 Benign
46304 Q6PI47 (KCTD18) G C 336 rs10203154 Benign
46305 Q6PI47 (KCTD18) C S 390 rs3795969 Benign
46306 Q6PI47 (KCTD18) A V 413 rs10203042 Benign
46307 Q6PI48 (DARS2) L V 10 rs4427454 Benign
46308 Q6PI48 (DARS2) S G 45 rs121918209 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46309 Q6PI48 (DARS2) C F 152 rs121918208 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46310 Q6PI48 (DARS2) R H 179 rs121918210 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46311 Q6PI48 (DARS2) Q K 184 rs1469160736 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46312 Q6PI48 (DARS2) K R 196 rs35515638 Benign
46313 Q6PI48 (DARS2) Q K 248 rs772489337 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46314 Q6PI48 (DARS2) R Q 263 rs121918207 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46315 Q6PI48 (DARS2) D V 560 rs770525873 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46316 Q6PI48 (DARS2) L F 613 rs121918212 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46317 Q6PI48 (DARS2) L Q 626 rs121918213 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46318 Q6PI48 (DARS2) L V 626 rs121918205 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46319 Q6PI48 (DARS2) Y C 629 rs761675657 Disease: Leukoencepha lopathy with brainstem and spinal cord involvement and lactate elevation (LBSL) [MIM:611105]
46320 Q6PI73 (LILRA6) L W 69 rs620207 Benign
46321 Q6PI73 (LILRA6) G R 149 rs1052966 Benign
46322 Q6PI73 (LILRA6) P R 288 rs1052975 Benign
46323 Q6PI73 (LILRA6) Y H 400 rs8104206 Benign
46324 Q6PI77 (BHLHB9) S G 132 rs2179675 Benign
46325 Q6PI77 (BHLHB9) C R 318 rs4514179 Benign
46326 Q6PI78 (TMEM65) I V 97 rs17854113 Benign
46327 Q6PID6 (TTC33) L M 69 rs837105 Benign
46328 Q6PID8 (KLHDC10) S L 2 rs3734928 Benign
46329 Q6PID8 (KLHDC10) D G 183 rs17854337 Benign
46330 Q6PID8 (KLHDC10) I V 274 rs17854336 Benign
46331 Q6PID8 (KLHDC10) E G 295 rs17857292 Benign
46332 Q6PID8 (KLHDC10) L I 437 rs10241894 Benign
46333 Q6PIF6 (MYO7B) G S 21 rs2404991 Benign
46334 Q6PIF6 (MYO7B) R Q 1264 rs2245408 Benign
46335 Q6PIF6 (MYO7B) E D 1647 rs13025959 Benign
46336 Q6PIF6 (MYO7B) Q R 2105 rs11686946 Benign
46337 Q6PII3 (CCDC174) T M 436 rs60239620 Benign
46338 Q6PIJ6 (FBXO38) C R 206 rs398122838 Disease: Neuronopathy , distal hereditary motor, 2D (HMN2D) [MIM:615575]
46339 Q6PIJ6 (FBXO38) S P 592 rs10043775 Benign
46340 Q6PIJ6 (FBXO38) A T 894 rs11949133 Benign
46341 Q6PIU1 (KCNV1) D G 22 rs17852611 Benign
46342 Q6PIU2 (NCEH1) V F 19 rs35316420 Benign
46343 Q6PIU2 (NCEH1) K Q 71 rs2302815 Benign
46344 Q6PIU2 (NCEH1) L M 343 rs17857335 Benign
46345 Q6PIW4 (FIGNL1) V M 137 rs10235371 Benign
46346 Q6PIW4 (FIGNL1) H Y 216 rs35929700 Benign
46347 Q6PIZ9 (TRAT1) D G 137 rs57744779 Benign
46348 Q6PIZ9 (TRAT1) S P 148 rs61585973 Benign
46349 Q6PJ21 (SPSB3) S L 171 rs35816944 Benign
46350 Q6PJ69 (TRIM65) V G 222 rs7222757 Benign
46351 Q6PJ69 (TRIM65) G R 364 rs34593741 Benign
46352 Q6PJ69 (TRIM65) G S 366 rs9892938 Benign
46353 Q6PJ69 (TRIM65) L P 509 rs3760128 Benign
46354 Q6PJE2 (POMZP3) R H 176 rs1065538 Benign
46355 Q6PJF5 (RHBDF2) I T 186 rs387907129 Disease: Tylosis with esophageal cancer (TOC) [MIM:148500]
46356 Q6PJF5 (RHBDF2) P L 189 rs387907130 Disease: Tylosis with esophageal cancer (TOC) [MIM:148500]
46357 Q6PJF5 (RHBDF2) P L 208 rs3744045 Benign
46358 Q6PJF5 (RHBDF2) A T 249 rs34814954 Benign
46359 Q6PJF5 (RHBDF2) D Y 528 rs11553545 Benign
46360 Q6PJG2 (MIDEAS) A V 86 rs35302179 Benign
46361 Q6PJG2 (MIDEAS) P L 554 rs17782124 Benign
46362 Q6PJG2 (MIDEAS) D N 895 rs35905570 Benign
46363 Q6PJG6 (BRAT1) R G 20 rs17856488 Benign
46364 Q6PJG6 (BRAT1) R W 737 rs60152725 Benign
46365 Q6PJG9 (LRFN4) V A 340 rs3741194 Benign
46366 Q6PJI9 (WDR59) P T 201 rs11557260 Benign
46367 Q6PJP8 (DCLRE1A) K E 58 rs17235066 Benign
46368 Q6PJP8 (DCLRE1A) E D 59 rs17228665 Benign
46369 Q6PJP8 (DCLRE1A) G D 71 rs17228672 Benign
46370 Q6PJP8 (DCLRE1A) P L 287 rs17235094 Benign
46371 Q6PJP8 (DCLRE1A) D H 317 rs3750898 Benign
46372 Q6PJP8 (DCLRE1A) G W 582 rs17855759 Benign
46373 Q6PJP8 (DCLRE1A) I F 859 rs11196530 Benign
46374 Q6PJQ5 (FOXR2) V A 286 rs2375465 Benign
46375 Q6PJW8 (CNST) S N 28 rs35286882 Benign
46376 Q6PJW8 (CNST) L S 87 rs6702823 Benign
46377 Q6PJW8 (CNST) Q R 183 rs12091148 Benign
46378 Q6PJW8 (CNST) R C 399 rs12075111 Benign
46379 Q6PK04 (CCDC137) H Q 127 rs7226091 Benign
46380 Q6PK04 (CCDC137) R W 177 rs11150805 Benign
46381 Q6PK04 (CCDC137) R Q 229 rs11546630 Benign
46382 Q6PK04 (CCDC137) R W 282 rs11546631 Benign
46383 Q6PK18 (OGFOD3) D E 67 rs8072110 Benign
46384 Q6PK18 (OGFOD3) P R 272 rs17852152 Benign
46385 Q6PKC3 (TXNDC11) V L 783 rs3190321 Benign
46386 Q6PKH6 (DHRS4L2) L M 17 rs2273947 Benign
46387 Q6PL18 (ATAD2) I T 1280 rs3758122 Benign
46388 Q6PL24 (TMED8) Q K 5 rs3742737 Benign
46389 Q6PL45 (BRICD5) S G 31 rs26856 Benign
46390 Q6PL45 (BRICD5) V I 46 rs26857 Benign
46391 Q6PL45 (BRICD5) H Y 122 rs58292351 Benign
46392 Q6PML9 (SLC30A9) M V 50 rs1047626 Benign
46393 Q6PML9 (SLC30A9) T A 97 rs2581423 Benign
46394 Q6PML9 (SLC30A9) L S 353 rs1801962 Benign
46395 Q6PRD1 (GPR179) D H 126 rs281875233 Disease: Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]
46396 Q6PRD1 (GPR179) Y C 220 rs281875236 Disease: Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]
46397 Q6PRD1 (GPR179) G D 455 rs281875235 Disease: Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]
46398 Q6PRD1 (GPR179) H Y 603 rs281875234 Disease: Night blindness, congenital stationary, 1E (CSNB1E) [MIM:614565]
46399 Q6PRD1 (GPR179) K E 1150 rs55727040 Benign
46400 Q6PRD1 (GPR179) Q E 1176 rs4399578 Benign
46401 Q6PRD1 (GPR179) C R 1381 rs4398144 Benign
46402 Q6PRD1 (GPR179) Q E 1869 rs4399578 Benign
46403 Q6PRD7 (CEMP1) K E 55 rs13331643 Benign
46404 Q6PXP3 (SLC2A7) V I 135 rs34545462 Benign
46405 Q6PXP3 (SLC2A7) R Q 261 rs12402973 Benign
46406 Q6Q0C0 (TRAF7) K E 346 - Disease: Cardiac, facial, and digital anomalies with developmenta l delay (CAFDADD) [MIM:618164]
46407 Q6Q0C0 (TRAF7) R G 371 - Disease: Cardiac, facial, and digital anomalies with developmenta l delay (CAFDADD) [MIM:618164]
46408 Q6Q0C0 (TRAF7) T A 601 - Disease: Cardiac, facial, and digital anomalies with developmenta l delay (CAFDADD) [MIM:618164]
46409 Q6Q0C0 (TRAF7) R Q 655 rs1331463984 Disease: Cardiac, facial, and digital anomalies with developmenta l delay (CAFDADD) [MIM:618164]
46410 Q6Q4G3 (LVRN) V F 640 rs17138632 Benign
46411 Q6Q4G3 (LVRN) L F 689 rs10078759 Benign
46412 Q6Q4G3 (LVRN) V I 936 rs17138681 Benign
46413 Q6Q759 (SPAG17) R Q 143 rs12133381 Benign
46414 Q6Q759 (SPAG17) E V 158 rs17185492 Benign
46415 Q6Q759 (SPAG17) T P 1253 rs34366834 Benign
46416 Q6Q759 (SPAG17) P L 1348 rs10923472 Benign
46417 Q6Q788 (APOA5) S W 19 rs3135506 Benign
46418 Q6Q788 (APOA5) D E 37 rs34282181 Benign
46419 Q6Q788 (APOA5) V M 153 rs3135507 Benign
46420 Q6Q788 (APOA5) G C 185 rs2075291 Benign
46421 Q6Q8B3 (CD200R1L) R L 113 rs4682119 Benign
46422 Q6QHC5 (DEGS2) S N 8 rs7157599 Benign
46423 Q6QHC5 (DEGS2) A T 57 rs4905937 Benign
46424 Q6QHK4 (FIGLA) A E 4 rs71647803 Benign
46425 Q6QHK4 (FIGLA) S T 141 rs7566476 Benign
46426 Q6QNK2 (ADGRD1) Y C 18 rs149181066 Benign
46427 Q6QNK2 (ADGRD1) Y H 18 rs146611221 Benign
46428 Q6QNK2 (ADGRD1) D N 32 rs376178471 Benign
46429 Q6QNK2 (ADGRD1) E K 78 rs267603378 Benign
46430 Q6QNK2 (ADGRD1) T M 82 rs143395855 Benign
46431 Q6QNK2 (ADGRD1) Y C 85 rs199848650 Benign
46432 Q6QNK2 (ADGRD1) Y D 89 rs201546462 Benign
46433 Q6QNK2 (ADGRD1) F L 110 rs148928637 Benign
46434 Q6QNK2 (ADGRD1) S F 138 rs199526762 Benign
46435 Q6QNK2 (ADGRD1) G S 140 rs374985420 Benign
46436 Q6QNK2 (ADGRD1) G D 141 rs142759046 Benign
46437 Q6QNK2 (ADGRD1) V L 145 rs146945782 Benign
46438 Q6QNK2 (ADGRD1) R W 150 rs144030317 Benign
46439 Q6QNK2 (ADGRD1) W S 174 rs141606054 Benign
46440 Q6QNK2 (ADGRD1) E K 178 rs148148477 Benign
46441 Q6QNK2 (ADGRD1) V I 184 rs61732860 Benign
46442 Q6QNK2 (ADGRD1) G R 195 rs267603379 Benign
46443 Q6QNK2 (ADGRD1) R C 199 rs146310036 Benign
46444 Q6QNK2 (ADGRD1) R H 199 rs375084180 Benign
46445 Q6QNK2 (ADGRD1) E D 203 rs201045213 Benign
46446 Q6QNK2 (ADGRD1) V M 209 rs139478688 Benign
46447 Q6QNK2 (ADGRD1) D N 226 rs377562590 Benign
46448 Q6QNK2 (ADGRD1) R W 233 rs370807516 Benign
46449 Q6QNK2 (ADGRD1) A T 241 rs368468703 Benign
46450 Q6QNK2 (ADGRD1) M T 242 rs201057341 Benign
46451 Q6QNK2 (ADGRD1) T I 245 rs201053759 Benign
46452 Q6QNK2 (ADGRD1) T A 257 rs146563785 Benign
46453 Q6QNK2 (ADGRD1) P Q 259 rs75096240 Benign
46454 Q6QNK2 (ADGRD1) S Y 265 rs137909892 Benign
46455 Q6QNK2 (ADGRD1) S N 268 rs149012578 Benign
46456 Q6QNK2 (ADGRD1) V A 270 rs147773154 Benign
46457 Q6QNK2 (ADGRD1) V M 270 rs147105264 Benign
46458 Q6QNK2 (ADGRD1) P A 293 rs146929634 Benign
46459 Q6QNK2 (ADGRD1) G R 294 rs148017957 Benign
46460 Q6QNK2 (ADGRD1) P S 308 rs201661954 Benign
46461 Q6QNK2 (ADGRD1) L F 318 rs200641036 Benign
46462 Q6QNK2 (ADGRD1) S N 349 rs370854685 Benign
46463 Q6QNK2 (ADGRD1) N S 364 rs146050435 Benign
46464 Q6QNK2 (ADGRD1) T M 369 rs142314859 Benign
46465 Q6QNK2 (ADGRD1) F S 383 rs200232576 Benign
46466 Q6QNK2 (ADGRD1) V M 393 rs374606811 Benign
46467 Q6QNK2 (ADGRD1) H Q 397 rs201985264 Benign
46468 Q6QNK2 (ADGRD1) R C 399 rs150882180 Benign
46469 Q6QNK2 (ADGRD1) G A 404 rs371536090 Benign
46470 Q6QNK2 (ADGRD1) Q P 405 rs145663007 Benign
46471 Q6QNK2 (ADGRD1) I V 410 rs376489706 Benign
46472 Q6QNK2 (ADGRD1) P S 411 rs147757048 Benign
46473 Q6QNK2 (ADGRD1) E K 413 rs142628291 Benign
46474 Q6QNK2 (ADGRD1) A V 419 rs370959644 Benign
46475 Q6QNK2 (ADGRD1) G S 425 rs374575404 Benign
46476 Q6QNK2 (ADGRD1) A T 441 rs375271891 Benign
46477 Q6QNK2 (ADGRD1) A D 448 rs200173874 Benign
46478 Q6QNK2 (ADGRD1) H R 450 rs200060202 Benign
46479 Q6QNK2 (ADGRD1) D N 453 rs149065791 Benign
46480 Q6QNK2 (ADGRD1) C Y 454 rs143062748 Benign
46481 Q6QNK2 (ADGRD1) A T 458 rs140426880 Benign
46482 Q6QNK2 (ADGRD1) S A 464 rs78638447 Benign
46483 Q6QNK2 (ADGRD1) N S 476 rs138163855 Benign
46484 Q6QNK2 (ADGRD1) S L 478 rs372643228 Benign
46485 Q6QNK2 (ADGRD1) T M 484 rs149266247 Benign
46486 Q6QNK2 (ADGRD1) V I 485 rs369012277 Benign
46487 Q6QNK2 (ADGRD1) E G 498 rs200576124 Benign
46488 Q6QNK2 (ADGRD1) A S 499 rs150620459 Benign
46489 Q6QNK2 (ADGRD1) V M 508 rs11833801 Benign
46490 Q6QNK2 (ADGRD1) S L 523 rs11061318 Benign
46491 Q6QNK2 (ADGRD1) N K 524 rs370443698 Benign
46492 Q6QNK2 (ADGRD1) V A 538 rs201849687 Benign
46493 Q6QNK2 (ADGRD1) V I 538 rs200971352 Benign
46494 Q6QNK2 (ADGRD1) R C 540 rs147294464 Benign
46495 Q6QNK2 (ADGRD1) R H 540 rs145630930 Benign
46496 Q6QNK2 (ADGRD1) R C 560 rs371989819 Benign
46497 Q6QNK2 (ADGRD1) R H 560 rs375179921 Benign
46498 Q6QNK2 (ADGRD1) S L 567 rs192515185 Benign
46499 Q6QNK2 (ADGRD1) I V 569 rs139017446 Benign
46500 Q6QNK2 (ADGRD1) A T 589 rs201161291 Benign
46501 Q6QNK2 (ADGRD1) V M 594 rs189007948 Benign
46502 Q6QNK2 (ADGRD1) R H 601 rs201524753 Benign
46503 Q6QNK2 (ADGRD1) L M 608 rs200052797 Benign
46504 Q6QNK2 (ADGRD1) R C 624 rs117457351 Benign
46505 Q6QNK2 (ADGRD1) E K 626 rs199778477 Benign
46506 Q6QNK2 (ADGRD1) T I 630 rs145482553 Benign
46507 Q6QNK2 (ADGRD1) S L 667 rs377401276 Benign
46508 Q6QNK2 (ADGRD1) R H 673 rs141128784 Benign
46509 Q6QNK2 (ADGRD1) M T 695 rs143163307 Benign
46510 Q6QNK2 (ADGRD1) G V 699 - Benign
46511 Q6QNK2 (ADGRD1) A V 720 rs141439159 Benign
46512 Q6QNK2 (ADGRD1) A T 743 rs143902981 Benign
46513 Q6QNK2 (ADGRD1) H R 749 rs372207677 Benign
46514 Q6QNK2 (ADGRD1) D E 751 rs147763331 Benign
46515 Q6QNK2 (ADGRD1) A E 761 rs369201469 Benign
46516 Q6QNK2 (ADGRD1) V M 764 rs149434203 Benign
46517 Q6QNK2 (ADGRD1) V M 777 rs144814859 Benign
46518 Q6QNK2 (ADGRD1) A V 779 rs61746588 Benign
46519 Q6QNK2 (ADGRD1) T M 793 rs375488636 Benign
46520 Q6QNK2 (ADGRD1) N K 795 rs369853823 Benign
46521 Q6QNK2 (ADGRD1) A T 816 rs368828722 Benign
46522 Q6QNK2 (ADGRD1) T M 827 rs371135988 Benign
46523 Q6QNK2 (ADGRD1) A T 831 rs146661482 Benign
46524 Q6QNK2 (ADGRD1) A T 836 rs144023497 Benign
46525 Q6QNK2 (ADGRD1) A V 836 rs367789023 Benign
46526 Q6QNK2 (ADGRD1) M T 851 rs78058857 Benign
46527 Q6QNK2 (ADGRD1) R H 868 rs61740366 Benign
46528 Q6QNK2 (ADGRD1) V I 869 rs377434309 Benign
46529 Q6QNK2 (ADGRD1) D N 870 rs143670024 Benign
46530 Q6QNK2 (ADGRD1) V M 874 rs148442158 Benign
46531 Q6QNY1 (BLOC1S2) S R 13 rs33965491 Benign
46532 Q6R2W3 (ZBED9) M V 155 rs409029 Benign
46533 Q6R2W3 (ZBED9) Q K 465 rs41270593 Benign
46534 Q6R327 (RICTOR) S F 837 rs2043112 Benign
46535 Q6R6M4 (USP17L2) K R 438 rs12543578 Benign
46536 Q6RI45 (BRWD3) K R 1288 rs3122407 Benign
46537 Q6RI45 (BRWD3) K E 1596 rs137853272 Disease: Mental retardation, X-linked 93 (MRX93) [MIM:300659]
46538 Q6RUI8 (C19orf48) V I 7 rs7251816 Benign
46539 Q6RUI8 (C19orf48) R C 84 rs4802741 Benign
46540 Q6RUI8 (C19orf48) G E 104 rs4801853 Benign
46541 Q6RW13 (AGTRAP) A V 143 rs17875960 Benign
46542 Q6S5L8 (SHC4) N D 52 rs17856991 Benign
46543 Q6S5L8 (SHC4) K E 244 rs17856990 Benign
46544 Q6S5L8 (SHC4) Q H 400 rs16961728 Benign
46545 Q6S5L8 (SHC4) D G 447 rs17856992 Benign
46546 Q6S9Z5 (ZNF474) R H 173 rs2560306 Benign
46547 Q6SA08 (TSSK4) H Y 33 rs36036137 Benign
46548 Q6SA08 (TSSK4) Y C 89 rs34083933 Benign
46549 Q6SA08 (TSSK4) V M 145 rs35468205 Benign
46550 Q6SA08 (TSSK4) Q R 196 rs1270764 Benign
46551 Q6SA08 (TSSK4) T M 327 rs35244223 Benign
46552 Q6SJ93 (FAM111B) G D 218 rs1060428 Benign
46553 Q6SJ93 (FAM111B) Y D 621 rs587777236 Disease: Poikiloderma , hereditary fibrosing, with tendon contractures , myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]
46554 Q6SJ93 (FAM111B) R G 627 rs587777237 Disease: Poikiloderma , hereditary fibrosing, with tendon contractures , myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]
46555 Q6SJ93 (FAM111B) S N 628 rs587777238 Disease: Poikiloderma , hereditary fibrosing, with tendon contractures , myopathy, and pulmonary fibrosis (POIKTMP) [MIM:615704]
46556 Q6SJ93 (FAM111B) P A 731 rs17153376 Benign
46557 Q6SJ96 (TBPL2) R P 31 rs8019270 Benign
46558 Q6SPF0 (SAMD1) E D 340 rs8062 Benign
46559 Q6STE5 (SMARCD3) P S 170 rs1050101 Benign
46560 Q6SZW1 (SARM1) P R 23 rs7212814 Benign
46561 Q6T423 (SLC22A25) R C 89 rs35722529 Benign
46562 Q6T423 (SLC22A25) S G 250 rs11231409 Benign
46563 Q6T423 (SLC22A25) R T 300 rs11231397 Benign
46564 Q6T423 (SLC22A25) G A 448 rs17157907 Benign
46565 Q6T423 (SLC22A25) M V 486 rs6591771 Benign
46566 Q6T4P5 (PLPPR3) I T 193 rs1540615 Benign
46567 Q6T4P5 (PLPPR3) A V 690 rs3746136 Benign
46568 Q6T4R5 (NHS) R C 583 - Benign
46569 Q6T4R5 (NHS) F L 1340 rs3747295 Benign
46570 Q6T4R5 (NHS) S T 1531 rs2071848 Benign
46571 Q6T4R5 (NHS) S T 1556 rs2071848 Benign
46572 Q6T4R5 (NHS) A P 1628 - Benign
46573 Q6TDU7 (CASC1) R S 33 rs10842496 Benign
46574 Q6TDU7 (CASC1) A E 633 rs859146 Benign
46575 Q6TFL3 (CCDC171) I N 17 rs443563 Benign
46576 Q6TFL3 (CCDC171) S T 121 rs4741510 Benign
46577 Q6TFL3 (CCDC171) N I 495 rs10962127 Benign
46578 Q6TFL3 (CCDC171) C Y 821 rs34816651 Benign
46579 Q6TFL3 (CCDC171) K R 1069 rs1539172 Benign
46580 Q6TGC4 (PADI6) H Q 211 rs775156958 Disease: Preimplantat ion embryonic lethality 2 (PREMBL2) [MIM:617234]
46581 Q6TGC4 (PADI6) G R 540 rs1057517684 Disease: Preimplantat ion embryonic lethality 2 (PREMBL2) [MIM:617234]
46582 Q6U949 (IGF2-AS) S I 106 rs17883406 Benign
46583 Q6U949 (IGF2-AS) P T 112 rs17883142 Benign
46584 Q6U949 (IGF2-AS) F V 125 rs1003483 Benign
46585 Q6U949 (IGF2-AS) T A 150 rs1003484 Benign
46586 Q6UB28 (METAP1D) G V 14 rs10497377 Benign
46587 Q6UB98 (ANKRD12) S T 171 - Benign
46588 Q6UB98 (ANKRD12) P A 277 rs2298548 Benign
46589 Q6UB98 (ANKRD12) E D 390 rs35101529 Benign
46590 Q6UB98 (ANKRD12) T I 507 rs17498752 Benign
46591 Q6UB98 (ANKRD12) T S 531 rs7243088 Benign
46592 Q6UB98 (ANKRD12) S N 818 rs2298546 Benign
46593 Q6UB98 (ANKRD12) K R 906 rs4798791 Benign
46594 Q6UB98 (ANKRD12) L S 998 rs34996750 Benign
46595 Q6UB98 (ANKRD12) S P 1758 rs3744822 Benign
46596 Q6UDR6 (SPINT4) A E 30 rs16990631 Benign
46597 Q6UDR6 (SPINT4) G S 73 rs6017667 Benign
46598 Q6UE05 (TMEM270) I N 14 rs11770052 Benign
46599 Q6UE05 (TMEM270) G V 67 rs56933025 Benign
46600 Q6UE05 (TMEM270) A D 70 rs17852792 Benign
46601 Q6UE05 (TMEM270) W R 78 rs13227841 Benign
46602 Q6ULP2 (AFTPH) D G 233 rs35986567 Benign
46603 Q6ULP2 (AFTPH) E K 301 rs3770740 Benign
46604 Q6ULP2 (AFTPH) N S 550 rs3770739 Benign
46605 Q6UQ28 (PLET1) S P 142 rs2564872 Benign
46606 Q6URK8 (TEPP) S N 260 rs9934227 Benign
46607 Q6UUV7 (CRTC3) S N 72 rs8033595 Benign
46608 Q6UUV7 (CRTC3) L S 346 - Benign
46609 Q6UUV9 (CRTC1) T A 286 rs3746266 Benign
46610 Q6UUV9 (CRTC1) V I 311 rs36070283 Benign
46611 Q6UUV9 (CRTC1) T A 328 rs3746266 Benign
46612 Q6UVJ0 (SASS6) I T 62 rs876661307 Disease: Microcephaly 14, primary, autosomal recessive (MCPH14) [MIM:616402]
46613 Q6UVJ0 (SASS6) A V 259 rs13375867 Benign
46614 Q6UVK1 (CSPG4) R H 1703 rs8023621 Benign
46615 Q6UVM3 (KCNT2) F L 240 rs1060499537 Disease: Epileptic encephalopat hy, early infantile, 57 (EIEE57) [MIM:617771]
46616 Q6UVM3 (KCNT2) C W 413 rs12738104 Benign
46617 Q6UVM3 (KCNT2) K N 429 rs12742082 Benign
46618 Q6UVW9 (CLEC2A) G D 136 rs526680 Benign
46619 Q6UVY6 (MOXD1) E Q 488 rs36075540 Benign
46620 Q6UVY6 (MOXD1) K E 539 rs17851680 Benign
46621 Q6UW02 (CYP20A1) S L 97 rs2043449 Benign
46622 Q6UW02 (CYP20A1) L F 346 rs1048013 Benign
46623 Q6UW10 (SFTA2) N S 37 rs3131787 Benign
46624 Q6UW49 (SPESP1) L F 133 rs3743091 Benign
46625 Q6UW49 (SPESP1) H Q 134 rs16952684 Benign
46626 Q6UW49 (SPESP1) G E 191 rs3743093 Benign
46627 Q6UW56 (ATRAID) A S 209 rs7437 Benign
46628 Q6UW60 (PCSK4) T M 267 rs36123574 Benign
46629 Q6UW63 (POGLUT2) I V 114 rs1047740 Benign
46630 Q6UW78 (UQCC3) V E 20 rs606231426 Disease: Mitochondria l complex III deficiency, nuclear 9 (MC3DN9) [MIM:616111]
46631 Q6UWB4 (PRSS55) P R 44 rs4521726 Benign
46632 Q6UWB4 (PRSS55) A V 212 rs4406360 Benign
46633 Q6UWE0 (LRSAM1) N D 318 rs1539567 Benign
46634 Q6UWE0 (LRSAM1) C R 694 rs759312530 Disease: Charcot- Marie-Tooth disease 2P (CMT2P) [MIM:614436]
46635 Q6UWF7 (NXPE4) Y H 398 rs550897 Benign
46636 Q6UWF7 (NXPE4) A V 451 rs10891705 Benign
46637 Q6UWF9 (FAM180A) V I 96 rs3112374 Benign
46638 Q6UWH4 (GASK1B) G S 432 rs17857283 Benign
46639 Q6UWI2 (PARM1) S L 127 rs3822109 Benign
46640 Q6UWJ1 (TMCO3) A T 443 rs2260335 Benign
46641 Q6UWJ1 (TMCO3) A T 445 rs7319493 Benign
46642 Q6UWJ8 (CD164L2) V M 76 rs2504779 Benign
46643 Q6UWL2 (SUSD1) Q E 201 rs17829458 Benign
46644 Q6UWL2 (SUSD1) H Q 524 rs17855713 Benign
46645 Q6UWL6 (KIRREL2) R S 19 rs446014 Benign
46646 Q6UWL6 (KIRREL2) A T 170 rs404299 Benign
46647 Q6UWL6 (KIRREL2) V M 353 rs35423326 Benign
46648 Q6UWL6 (KIRREL2) S N 556 rs35775934 Benign
46649 Q6UWL6 (KIRREL2) K E 591 rs382789 Benign
46650 Q6UWM7 (LCTL) T M 212 rs7179073 Benign
46651 Q6UWM7 (LCTL) A T 240 rs1030986 Benign
46652 Q6UWN0 (LYPD4) T S 184 rs35476281 Benign
46653 Q6UWN5 (LYPD5) P A 47 rs114779742 Benign
46654 Q6UWN5 (LYPD5) A P 90 rs11547806 Benign
46655 Q6UWN5 (LYPD5) N S 167 rs349053 Benign
46656 Q6UWN8 (SPINK6) P T 36 rs12186491 Benign
46657 Q6UWP7 (LCLAT1) I V 290 rs12471868 Benign
46658 Q6UWP8 (SBSN) A G 419 rs10775583 Benign
46659 Q6UWQ5 (LYZL1) Q P 62 rs3818551 Benign
46660 Q6UWR7 (ENPP6) D N 357 rs4488969 Benign
46661 Q6UWR7 (ENPP6) S G 419 rs4479748 Benign
46662 Q6UWT4 (C5orf46) F I 18 rs7722926 Benign
46663 Q6UWV2 (MPZL3) M V 155 rs17121966 Benign
46664 Q6UWV2 (MPZL3) V G 168 rs36102742 Benign
46665 Q6UWV2 (MPZL3) V M 172 rs34507994 Benign
46666 Q6UWV2 (MPZL3) D V 228 rs7105729 Benign
46667 Q6UWV6 (ENPP7) L P 4 rs8074547 Benign
46668 Q6UWW0 (LCN15) S A 152 rs2297723 Benign
46669 Q6UWW0 (LCN15) K E 164 rs2297722 Benign
46670 Q6UWW8 (CES3) V I 129 rs61745806 Benign
46671 Q6UWW8 (CES3) A T 151 rs71647891 Benign
46672 Q6UWW8 (CES3) Y H 160 rs71647892 Benign
46673 Q6UWW8 (CES3) E K 191 rs61742964 Benign
46674 Q6UWW8 (CES3) I N 213 rs71647894 Benign
46675 Q6UWW8 (CES3) R W 367 rs61743167 Benign
46676 Q6UWW8 (CES3) A V 523 rs71649615 Benign
46677 Q6UWW8 (CES3) I V 555 rs8059252 Benign
46678 Q6UWW9 (TMEM207) L V 57 rs35161724 Benign
46679 Q6UWX4 (HHIPL2) V M 241 rs3811466 Benign
46680 Q6UWX4 (HHIPL2) H D 391 rs3748666 Benign
46681 Q6UWX4 (HHIPL2) R Q 394 rs3748665 Benign
46682 Q6UWX4 (HHIPL2) R L 434 rs3748663 Benign
46683 Q6UWY0 (ARSK) Q R 525 rs17084927 Benign
46684 Q6UWY2 (PRSS57) P L 143 rs8102982 Benign
46685 Q6UWY5 (OLFML1) E V 113 rs12805648 Benign
46686 Q6UWY5 (OLFML1) A T 259 rs12803046 Benign
46687 Q6UWZ7 (ABRAXAS1) A T 239 rs752929794 Benign
46688 Q6UWZ7 (ABRAXAS1) A T 348 rs12642536 Benign
46689 Q6UWZ7 (ABRAXAS1) R Q 361 rs201627097 Disease: Breast cancer (BC) [MIM:114480]
46690 Q6UWZ7 (ABRAXAS1) D N 373 rs13125836 Benign
46691 Q6UX04 (CWC27) P A 256 rs7735338 Benign
46692 Q6UX06 (OLFM4) S P 36 rs35790097 Benign
46693 Q6UX07 (DHRS13) R Q 191 rs2277666 Benign
46694 Q6UX07 (DHRS13) L Q 336 rs4795472 Benign
46695 Q6UX15 (LAYN) E K 66 rs11827718 Benign
46696 Q6UX27 (VSTM1) S G 163 rs2433724 Benign
46697 Q6UX39 (AMTN) N S 45 rs7660807 Benign
46698 Q6UX39 (AMTN) S P 50 rs34803339 Benign
46699 Q6UX40 (TMEM107) E G 45 rs1555526172 Disease: Orofaciodigi tal syndrome 16 (OFD16) [MIM:617563]
46700 Q6UX41 (BTNL8) T A 143 rs2276995 Benign
46701 Q6UX41 (BTNL8) E K 229 rs7724813 Benign
46702 Q6UX41 (BTNL8) H Q 311 rs146303629 Benign
46703 Q6UX41 (BTNL8) T K 326 rs7703365 Benign
46704 Q6UX41 (BTNL8) A T 477 rs113820381 Benign
46705 Q6UX52 (C17orf99) W R 101 rs4789017 Benign
46706 Q6UX65 (DRAM2) Y H 27 rs786205662 Disease: Cone-rod dystrophy 21 (CORD21) [MIM:616502]
46707 Q6UX65 (DRAM2) S N 44 rs786205665 Disease: Cone-rod dystrophy 21 (CORD21) [MIM:616502]
46708 Q6UX65 (DRAM2) H L 121 rs786205664 Disease: Cone-rod dystrophy 21 (CORD21) [MIM:616502]
46709 Q6UX71 (PLXDC2) V I 396 rs3817405 Benign
46710 Q6UX71 (PLXDC2) I V 458 rs2778979 Benign
46711 Q6UX73 (C16orf89) G A 215 rs17853191 Benign
46712 Q6UX73 (C16orf89) L S 296 rs1127920 Benign
46713 Q6UX73 (C16orf89) Y H 363 rs11642955 Benign
46714 Q6UXA7 (C6orf15) V M 5 rs2270191 Benign
46715 Q6UXA7 (C6orf15) L F 40 rs2233974 Benign
46716 Q6UXA7 (C6orf15) N D 43 rs2233975 Benign
46717 Q6UXA7 (C6orf15) G R 48 rs2233976 Benign
46718 Q6UXA7 (C6orf15) V A 81 rs2233977 Benign
46719 Q6UXA7 (C6orf15) A P 83 rs1265053 Benign
46720 Q6UXA7 (C6orf15) A P 145 rs2233978 Benign
46721 Q6UXA7 (C6orf15) K E 165 rs1265054 Benign
46722 Q6UXA7 (C6orf15) M I 232 rs2233982 Benign
46723 Q6UXA7 (C6orf15) G D 291 rs2233984 Benign
46724 Q6UXB1 (IGFL3) T S 66 rs10406448 Benign
46725 Q6UXB3 (LYPD2) R Q 5 rs11778314 Benign
46726 Q6UXB3 (LYPD2) A V 7 rs11775636 Benign
46727 Q6UXB8 (PI16) T P 50 rs1405069 Benign
46728 Q6UXB8 (PI16) L V 416 rs16889318 Benign
46729 Q6UXC1 (MAMDC4) W G 987 rs2275156 Benign
46730 Q6UXD5 (SEZ6L2) R P 74 rs11649499 Benign
46731 Q6UXD7 (SLC49A3) S P 170 rs11558585 Benign
46732 Q6UXF1 (TMEM108) P L 84 rs34111099 Benign
46733 Q6UXG2 (ELAPOR1) I V 86 rs678238 Benign
46734 Q6UXG2 (ELAPOR1) T P 623 rs659543 Benign
46735 Q6UXG2 (ELAPOR1) L P 1009 rs1052878 Benign
46736 Q6UXG3 (CD300LG) D N 221 rs17852267 Benign
46737 Q6UXG3 (CD300LG) T A 228 rs12453522 Benign
46738 Q6UXG8 (BTNL9) G R 511 rs10068763 Benign
46739 Q6UXH0 (ANGPTL8) R W 59 rs2278426 Benign
46740 Q6UXH0 (ANGPTL8) R Q 147 rs34056604 Benign
46741 Q6UXH1 (CRELD2) D E 182 rs8139422 Benign
46742 Q6UXH1 (CRELD2) S A 295 rs11545762 Benign
46743 Q6UXH1 (CRELD2) E G 325 rs11545763 Benign
46744 Q6UXH8 (CCBE1) C S 75 rs121908250 Disease: Hennekam lymphangiect asia- lymphedema syndrome 1 (HKLLS1) [MIM:235510]
46745 Q6UXH8 (CCBE1) C S 102 rs121908251 Disease: Hennekam lymphangiect asia- lymphedema syndrome 1 (HKLLS1) [MIM:235510]
46746 Q6UXH8 (CCBE1) R C 158 rs121908253 Disease: Hennekam lymphangiect asia- lymphedema syndrome 1 (HKLLS1) [MIM:235510]
46747 Q6UXH8 (CCBE1) C R 174 rs121908254 Disease: Hennekam lymphangiect asia- lymphedema syndrome 1 (HKLLS1) [MIM:235510]
46748 Q6UXH8 (CCBE1) V G 193 rs11659589 Benign
46749 Q6UXH8 (CCBE1) G R 327 rs121908252 Disease: Hennekam lymphangiect asia- lymphedema syndrome 1 (HKLLS1) [MIM:235510]
46750 Q6UXH9 (PAMR1) A T 305 rs16927482 Benign
46751 Q6UXI7 (VIT) K R 555 rs2072526 Benign
46752 Q6UXI7 (VIT) L I 559 rs2072525 Benign
46753 Q6UXI7 (VIT) H Y 658 rs11901202 Benign
46754 Q6UXI9 (NPNT) Q H 159 rs35132891 Benign
46755 Q6UXI9 (NPNT) I V 234 rs4340795 Benign
46756 Q6UXI9 (NPNT) G S 473 rs35613262 Benign
46757 Q6UXI9 (NPNT) M T 476 rs35488797 Benign
46758 Q6UXK2 (ISLR2) S F 137 rs3889598 Benign
46759 Q6UXK5 (LRRN1) L V 395 rs35362954 Benign
46760 Q6UXK5 (LRRN1) T P 702 rs34611357 Benign
46761 Q6UXN2 (TREML4) W R 73 rs9369265 Benign
46762 Q6UXN2 (TREML4) T K 146 rs9471515 Benign
46763 Q6UXN2 (TREML4) T I 168 rs7769759 Benign
46764 Q6UXN8 (CLEC9A) A G 107 rs11831360 Benign
46765 Q6UXP3 (TMEM14EP) L P 82 rs13077912 Benign
46766 Q6UXP7 (FAM151B) I T 155 rs369998 Benign
46767 Q6UXS9 (CASP12) I T 68 rs693001 Benign
46768 Q6UXS9 (CASP12) S G 238 rs647039 Benign
46769 Q6UXT9 (ABHD15) T A 334 rs542939 Benign
46770 Q6UXU6 (TMEM92) A T 4 rs9894445 Benign
46771 Q6UXU6 (TMEM92) S N 90 rs6504642 Benign
46772 Q6UXU6 (TMEM92) S T 90 rs6504642 Benign
46773 Q6UXV0 (GFRAL) R C 33 rs12199003 Benign
46774 Q6UXV0 (GFRAL) S P 387 rs9370418 Benign
46775 Q6UXV1 (IZUMO2) R C 139 rs3745498 Benign
46776 Q6UXX5 (ITIH6) G R 387 rs34188213 Benign
46777 Q6UXX5 (ITIH6) R C 561 rs34004499 Benign
46778 Q6UXX5 (ITIH6) W S 1041 rs17316491 Benign
46779 Q6UXX5 (ITIH6) G A 1170 rs35355718 Benign
46780 Q6UXX9 (RSPO2) R C 69 - Disease: Humerofemora l hypoplasia with radiotibial ray deficiency (HHRRD) [MIM:618022]
46781 Q6UXX9 (RSPO2) L P 186 rs601558 Benign
46782 Q6UXY8 (TMC5) S N 328 rs16972013 Benign
46783 Q6UXY8 (TMC5) A T 355 rs36019638 Benign
46784 Q6UXZ3 (CD300LD) S A 6 rs493430 Benign
46785 Q6UXZ3 (CD300LD) V M 89 rs783239 Benign
46786 Q6UXZ4 (UNC5D) R K 728 rs35487923 Benign
46787 Q6UY01 (LRRC31) L F 322 rs35923425 Benign
46788 Q6UY01 (LRRC31) A E 324 rs3732452 Benign
46789 Q6UY01 (LRRC31) L F 378 rs35923425 Benign
46790 Q6UY09 (CEACAM20) A V 41 rs10408247 Benign
46791 Q6UY09 (CEACAM20) T I 87 rs36053277 Benign
46792 Q6UY09 (CEACAM20) R H 113 rs13345196 Benign
46793 Q6UY09 (CEACAM20) I V 127 rs35443082 Benign
46794 Q6UY09 (CEACAM20) S L 355 rs16959164 Benign
46795 Q6UY09 (CEACAM20) S F 369 rs10414398 Benign
46796 Q6UY09 (CEACAM20) R C 512 rs8100718 Benign
46797 Q6UY11 (DLK2) G R 301 rs35192247 Benign
46798 Q6UY14 (ADAMTSL4) A P 193 rs41317515 Benign
46799 Q6UY14 (ADAMTSL4) R H 1028 rs56411234 Benign
46800 Q6UYE1 (DLEU7) A V 83 rs898861 Benign
46801 Q6V0I7 (FAT4) Q L 453 rs6847454 Benign
46802 Q6V0I7 (FAT4) F L 475 - Disease: Hennekam lymphangiect asia- lymphedema syndrome 2 (HKLLS2) [MIM:616006]
46803 Q6V0I7 (FAT4) E Q 486 - Disease: Hennekam lymphangiect asia- lymphedema syndrome 2 (HKLLS2) [MIM:616006]
46804 Q6V0I7 (FAT4) A V 807 rs1039808 Benign
46805 Q6V0I7 (FAT4) E K 2375 rs398122955 Disease: Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]
46806 Q6V0I7 (FAT4) D N 2826 rs12508222 Benign
46807 Q6V0I7 (FAT4) G D 3524 rs1567047 Benign
46808 Q6V0I7 (FAT4) K E 3828 rs17009684 Benign
46809 Q6V0I7 (FAT4) S N 3873 rs12650153 Benign
46810 Q6V0I7 (FAT4) C F 4159 rs398122953 Disease: Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]
46811 Q6V0I7 (FAT4) S F 4282 rs199682210 Disease: Hennekam lymphangiect asia- lymphedema syndrome 2 (HKLLS2) [MIM:616006]
46812 Q6V0I7 (FAT4) E K 4374 rs11942361 Benign
46813 Q6V0I7 (FAT4) C Y 4398 rs398122954 Disease: Van Maldergem syndrome 2 (VMLDS2) [MIM:615546]
46814 Q6V0I7 (FAT4) P S 4972 rs1014867 Benign
46815 Q6V0I7 (FAT4) A T 4977 rs17009858 Benign
46816 Q6V0L0 (CYP26C1) R Q 245 rs11187265 Benign
46817 Q6V702 (CFAP299) T M 138 rs11947742 Benign
46818 Q6V702 (CFAP299) V I 220 rs1052325 Benign
46819 Q6V9R5 (ZNF562) F L 178 rs1163497365 Benign
46820 Q6V9R5 (ZNF562) K E 205 rs1059199 Benign
46821 Q6V9R5 (ZNF562) E K 260 rs1059199 Benign
46822 Q6VMQ6 (ATF7IP) E K 278 rs2231908 Benign
46823 Q6VMQ6 (ATF7IP) N I 348 rs2231909 Benign
46824 Q6VMQ6 (ATF7IP) K R 530 rs3213764 Benign
46825 Q6VVB1 (NHLRC1) S R 22 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46826 Q6VVB1 (NHLRC1) C S 26 rs28940575 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46827 Q6VVB1 (NHLRC1) F S 33 rs757759398 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46828 Q6VVB1 (NHLRC1) C Y 46 rs1193718748 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46829 Q6VVB1 (NHLRC1) E Q 67 rs779507031 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46830 Q6VVB1 (NHLRC1) C Y 68 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46831 Q6VVB1 (NHLRC1) P A 69 rs28940576 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46832 Q6VVB1 (NHLRC1) L P 87 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46833 Q6VVB1 (NHLRC1) P L 111 rs10949483 Benign
46834 Q6VVB1 (NHLRC1) L P 126 rs950907157 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46835 Q6VVB1 (NHLRC1) D N 146 rs769301934 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46836 Q6VVB1 (NHLRC1) I M 153 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46837 Q6VVB1 (NHLRC1) C R 160 rs200595273 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46838 Q6VVB1 (NHLRC1) I N 198 rs121917876 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46839 Q6VVB1 (NHLRC1) W R 219 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46840 Q6VVB1 (NHLRC1) D A 233 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46841 Q6VVB1 (NHLRC1) D N 245 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46842 Q6VVB1 (NHLRC1) R K 253 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46843 Q6VVB1 (NHLRC1) L P 261 rs879745047 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46844 Q6VVB1 (NHLRC1) P H 264 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46845 Q6VVB1 (NHLRC1) L P 279 - Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46846 Q6VVB1 (NHLRC1) Q P 302 rs757858146 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46847 Q6VVB1 (NHLRC1) D A 308 rs137852859 Disease: Epilepsy, progressive myoclonic 2 (EPM2) [MIM:254780]
46848 Q6VVX0 (CYP2R1) L P 99 rs61495246 Disease: Rickets vitamin D-dependent 1B (VDDR1B) [MIM:600081]
46849 Q6VY07 (PACS1) R W 203 rs398123009 Disease: Schuurs- Hoeijmakers syndrome (SHMS) [MIM:615009]
46850 Q6VY07 (PACS1) F L 302 rs12798852 Benign
46851 Q6W0C5 (DPPA3) E Q 51 rs2024320 Benign
46852 Q6W2J9 (BCOR) P L 85 rs121434618 Disease: Microphthalm ia, syndromic, 2 (MCOPS2) [MIM:300166]
46853 Q6W3E5 (GDPD4) K R 220 rs2729772 Benign
46854 Q6W3E5 (GDPD4) H Y 383 rs11237146 Benign
46855 Q6W3E5 (GDPD4) I V 390 rs11237145 Benign
46856 Q6W3E5 (GDPD4) N K 396 - Benign
46857 Q6W4X9 (MUC6) P S 1578 rs10736904 Benign
46858 Q6W4X9 (MUC6) P T 1794 rs35549382 Benign
46859 Q6W5P4 (NPSR1) N I 107 rs324981 Benign
46860 Q6W5P4 (NPSR1) R Q 122 rs35436513 Benign
46861 Q6W5P4 (NPSR1) S G 143 rs325465 Benign
46862 Q6W5P4 (NPSR1) C F 197 rs34705969 Benign
46863 Q6W5P4 (NPSR1) T I 212 rs35537374 Benign
46864 Q6W5P4 (NPSR1) S R 241 rs727162 Benign
46865 Q6W5P4 (NPSR1) I T 315 rs10270766 Benign
46866 Q6W5P4 (NPSR1) Q R 344 rs6972158 Benign
46867 Q6WCQ1 (MPRIP) P Q 327 rs3744137 Benign
46868 Q6WKZ4 (RAB11FIP1) Q K 622 rs7341564 Benign
46869 Q6WKZ4 (RAB11FIP1) A V 651 rs12541651 Benign
46870 Q6WKZ4 (RAB11FIP1) A V 768 rs16887092 Benign
46871 Q6WKZ4 (RAB11FIP1) M T 1185 rs7817179 Benign
46872 Q6WN34 (CHRDL2) P L 335 rs35903991 Benign
46873 Q6WQI6 (HEPN1) W R 37 rs3802904 Benign
46874 Q6WRI0 (IGSF10) T I 124 rs35953658 Benign
46875 Q6WRI0 (IGSF10) Y D 150 rs7619322 Benign
46876 Q6WRI0 (IGSF10) R L 156 rs138756085 Disease: -
46877 Q6WRI0 (IGSF10) E K 161 rs114161831 Disease: -
46878 Q6WRI0 (IGSF10) P S 571 rs17204557 Benign
46879 Q6WRI0 (IGSF10) D N 795 rs58583961 Benign
46880 Q6WRI0 (IGSF10) S A 1199 rs16863403 Benign
46881 Q6WRI0 (IGSF10) T I 1370 rs34933248 Benign
46882 Q6WRI0 (IGSF10) Y H 1875 rs12487205 Benign
46883 Q6WRI0 (IGSF10) R W 2476 rs3732775 Benign
46884 Q6WRI0 (IGSF10) H Y 2579 rs7624011 Benign
46885 Q6X4T0 (C12orf54) P S 86 rs11458 Benign
46886 Q6X4U4 (SOSTDC1) Q H 189 rs34016012 Benign
46887 Q6X4W1 (NSMF) R H 196 rs770597015 Disease: Hypogonadotr opic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]
46888 Q6X4W1 (NSMF) T A 480 rs121918340 Disease: Hypogonadotr opic hypogonadism 9 with or without anosmia (HH9) [MIM:614838]
46889 Q6X4W1 (NSMF) L V 511 rs34177733 Benign
46890 Q6X784 (ZPBP2) P A 68 rs35591738 Benign
46891 Q6X784 (ZPBP2) T I 69 rs189660050 Benign
46892 Q6X784 (ZPBP2) A T 118 rs35829084 Benign
46893 Q6X784 (ZPBP2) S I 173 rs11557467 Benign
46894 Q6X784 (ZPBP2) Q E 335 rs35302660 Benign
46895 Q6X9E4 (FBXW12) P L 6 rs17080138 Benign
46896 Q6X9E4 (FBXW12) R W 166 rs6442117 Benign
46897 Q6X9E4 (FBXW12) V D 273 rs6784322 Benign
46898 Q6XPR3 (RPTN) S G 320 rs12117644 Benign
46899 Q6XPS3 (TPTE2) V I 367 rs2497218 Benign
46900 Q6XPS3 (TPTE2) I V 444 rs2497218 Benign
46901 Q6XQN6 (NAPRT) A V 57 rs896950 Benign
46902 Q6XR72 (SLC30A10) L P 89 rs281860284 Disease: Hypermangane semia with dystonia 1 (HMNDYT1) [MIM:613280]
46903 Q6XR72 (SLC30A10) F S 167 rs281860286 Benign
46904 Q6XR72 (SLC30A10) L P 349 rs281860291 Disease: Hypermangane semia with dystonia 1 (HMNDYT1) [MIM:613280]
46905 Q6XUX3 (DSTYK) D G 200 - Disease: Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805]
46906 Q6XUX3 (DSTYK) L V 432 rs35845538 Benign
46907 Q6XUX3 (DSTYK) S L 843 rs778586547 Disease: Congenital anomalies of the kidney and urinary tract 1 (CAKUT1) [MIM:610805]
46908 Q6XXX2 (LINC00114) S T 21 rs2836662 Benign
46909 Q6XXX2 (LINC00114) N K 39 rs11908799 Benign
46910 Q6XXX2 (LINC00114) A S 52 rs11908743 Benign
46911 Q6XXX2 (LINC00114) M R 104 rs16996776 Benign
46912 Q6XYB7 (LBX2) S F 158 rs17009998 Benign
46913 Q6XYQ8 (SYT10) S I 172 rs12317722 Benign
46914 Q6XYQ8 (SYT10) T S 420 rs35190376 Benign
46915 Q6XYQ8 (SYT10) H P 488 rs34190017 Benign
46916 Q6XYQ8 (SYT10) A V 505 rs34361405 Benign
46917 Q6XZB0 (LIPI) C Y 55 rs11909217 Disease: Hypertriglyc eridemia, familial (FHTR) [MIM:145750]
46918 Q6XZB0 (LIPI) G E 364 rs74369337 Benign
46919 Q6XZB0 (LIPI) E K 431 rs2822432 Benign
46920 Q6XZB0 (LIPI) D E 444 rs7278737 Benign
46921 Q6XZF7 (DNMBP) E D 81 rs12267912 Benign
46922 Q6XZF7 (DNMBP) N K 373 rs35924554 Benign
46923 Q6XZF7 (DNMBP) N K 914 rs7919507 Benign
46924 Q6XZF7 (DNMBP) C W 1413 rs11190305 Benign
46925 Q6Y288 (B3GLCT) E K 370 rs1041073 Benign
46926 Q6Y7W6 (GIGYF2) N S 56 rs72554080 Benign
46927 Q6Y7W6 (GIGYF2) T A 112 rs1171688751 Disease: Parkinson disease 11 (PARK11) [MIM:607688]
46928 Q6Y7W6 (GIGYF2) I V 278 rs118203904 Disease: Parkinson disease 11 (PARK11) [MIM:607688]
46929 Q6Y7W6 (GIGYF2) S T 335 rs776898936 Disease: Parkinson disease 11 (PARK11) [MIM:607688]
46930 Q6Y7W6 (GIGYF2) P L 423 rs34845648 Benign
46931 Q6Y7W6 (GIGYF2) P T 460 rs2289912 Benign
46932 Q6Y7W6 (GIGYF2) A V 560 rs761136505 Benign
46933 Q6Y7W6 (GIGYF2) R G 589 - Disease: Parkinson disease 11 (PARK11) [MIM:607688]
46934 Q6Y7W6 (GIGYF2) D E 606 rs118203903 Disease: Parkinson disease 11 (PARK11) [MIM:607688]
46935 Q6Y7W6 (GIGYF2) A V 1131 rs773011114 Benign
46936 Q6Y7W6 (GIGYF2) H R 1171 rs72554081 Benign
46937 Q6Y7W6 (GIGYF2) V I 1242 rs769022021 Disease: Parkinson disease 11 (PARK11) [MIM:607688]
46938 Q6YBV0 (SLC36A4) L I 209 rs17854446 Benign
46939 Q6YBV0 (SLC36A4) P H 376 rs17854445 Benign
46940 Q6YBV0 (SLC36A4) L I 429 rs17854443 Benign
46941 Q6YHK3 (CD109) G V 45 rs9446983 Benign
46942 Q6YHK3 (CD109) G D 377 rs7741152 Benign
46943 Q6YHK3 (CD109) L F 641 rs7742662 Benign
46944 Q6YHK3 (CD109) Y S 703 rs10455097 Benign
46945 Q6YHK3 (CD109) D G 791 - Benign
46946 Q6YHK3 (CD109) N S 797 rs2351528 Benign
46947 Q6YHK3 (CD109) V I 845 rs5023688 Benign
46948 Q6YHK3 (CD109) V M 1009 rs35630075 Benign
46949 Q6YHK3 (CD109) T M 1241 rs2917862 Benign
46950 Q6YHK3 (CD109) H R 1296 rs13207595 Benign
46951 Q6YHU6 (THADA) E G 63 rs10210191 Benign
46952 Q6YHU6 (THADA) V I 699 rs17031056 Benign
46953 Q6YHU6 (THADA) T A 1187 rs7578597 Benign
46954 Q6YHU6 (THADA) T S 1385 rs33979934 Benign
46955 Q6YHU6 (THADA) P S 1451 rs17334247 Benign
46956 Q6YHU6 (THADA) C Y 1605 rs35720761 Benign
46957 Q6YHU6 (THADA) C R 1668 rs17030648 Benign
46958 Q6YP21 (KYAT3) S P 206 rs1059370 Benign
46959 Q6ZMB5 (TMEM184A) A V 18 rs17852421 Benign
46960 Q6ZMB5 (TMEM184A) S G 390 rs3779607 Benign
46961 Q6ZMC9 (SIGLEC15) F L 273 rs2919643 Benign
46962 Q6ZMD2 (SPNS3) G R 293 rs34457931 Benign
46963 Q6ZMD2 (SPNS3) A S 330 rs11655342 Benign
46964 Q6ZMH5 (SLC39A5) M T 304 rs587777625 Disease: Myopia 24, autosomal dominant (MYP24) [MIM:615946]
46965 Q6ZMI3 (GLDN) A E 32 rs779432560 Disease: Lethal congenital contracture syndrome 11 (LCCS11) [MIM:617194]
46966 Q6ZMI3 (GLDN) S N 141 rs17648128 Benign
46967 Q6ZMI3 (GLDN) S N 265 rs17648128 Benign
46968 Q6ZMI3 (GLDN) D N 351 rs35223886 Benign
46969 Q6ZMI3 (GLDN) A P 475 rs764239923 Disease: Lethal congenital contracture syndrome 11 (LCCS11) [MIM:617194]
46970 Q6ZMJ2 (SCARA5) A T 45 rs17058374 Benign
46971 Q6ZMJ2 (SCARA5) D H 316 rs17058207 Benign
46972 Q6ZMJ4 (IL34) E Q 123 rs8046424 Benign
46973 Q6ZMJ4 (IL34) S T 195 rs7206509 Benign
46974 Q6ZMN7 (PDZRN4) G S 429 rs285584 Benign
46975 Q6ZMN8 (CCNI2) A P 91 rs803056 Benign
46976 Q6ZMQ8 (AATK) T M 118 rs8082016 Benign
46977 Q6ZMQ8 (AATK) G C 703 rs7503604 Benign
46978 Q6ZMQ8 (AATK) S R 815 rs56032966 Benign
46979 Q6ZMQ8 (AATK) S L 923 rs56313973 Benign
46980 Q6ZMQ8 (AATK) E K 1160 rs55793641 Benign
46981 Q6ZMQ8 (AATK) P S 1192 rs55856613 Benign
46982 Q6ZMQ8 (AATK) F S 1266 rs36000545 Benign
46983 Q6ZMQ8 (AATK) A T 1332 rs55713566 Benign
46984 Q6ZMR5 (TMPRSS11A) R Q 293 rs353163 Benign
46985 Q6ZMS7 (ZNF783) R C 63 rs764239191 Benign
46986 Q6ZMT4 (KDM7A) R S 644 rs6950119 Benign
46987 Q6ZMT9 (DTHD1) G R 26 rs16992035 Benign
46988 Q6ZMT9 (DTHD1) V D 179 rs1995319 Benign
46989 Q6ZMT9 (DTHD1) R C 552 rs12507599 Benign
46990 Q6ZMT9 (DTHD1) R H 662 rs9654132 Benign
46991 Q6ZMU1 (C3P1) Q R 172 rs8113341 Benign
46992 Q6ZMU1 (C3P1) D N 230 rs10403787 Benign
46993 Q6ZMU1 (C3P1) D G 251 rs1993466 Benign
46994 Q6ZMU1 (C3P1) L R 262 rs4552116 Benign
46995 Q6ZMV7 (LEKR1) I V 356 rs61469347 Benign
46996 Q6ZMV8 (ZNF730) G E 365 rs7247102 Benign
46997 Q6ZMV9 (KIF6) R H 512 rs2273063 Benign
46998 Q6ZMV9 (KIF6) W R 719 rs20455 Benign
46999 Q6ZMW2 (ZNF782) R P 130 rs7870376 Benign
47000 Q6ZMW2 (ZNF782) R H 165 rs4645656 Benign
47001 Q6ZMW2 (ZNF782) N S 246 rs34763627 Benign
47002 Q6ZMW2 (ZNF782) T A 289 rs35403084 Benign
47003 Q6ZMY3 (SPOCD1) T A 109 rs6664445 Benign
47004 Q6ZMY3 (SPOCD1) R W 436 rs6669563 Benign
47005 Q6ZMY6 (WDR88) C R 310 rs11881580 Benign
47006 Q6ZMY9 (ZNF517) P L 6 rs2976649 Benign
47007 Q6ZMZ3 (SYNE3) T M 668 rs9671369 Benign
47008 Q6ZMZ3 (SYNE3) R H 864 rs17092216 Benign
47009 Q6ZMZ3 (SYNE3) A V 923 rs12434757 Benign
47010 Q6ZMZ3 (SYNE3) I V 946 rs10130647 Benign
47011 Q6ZN03 (LINC00322) L F 116 rs564352 Benign
47012 Q6ZN03 (LINC00322) A T 149 rs2838262 Benign
47013 Q6ZN06 (ZNF813) A T 62 rs2617667 Benign
47014 Q6ZN06 (ZNF813) D V 93 rs12609217 Benign
47015 Q6ZN06 (ZNF813) I F 168 rs12460628 Benign
47016 Q6ZN06 (ZNF813) Y C 192 rs3859494 Benign
47017 Q6ZN06 (ZNF813) R K 231 rs10421308 Benign
47018 Q6ZN06 (ZNF813) Y F 439 rs10422163 Benign
47019 Q6ZN11 (ZNF793) I M 68 rs12977460 Benign
47020 Q6ZN11 (ZNF793) I V 133 rs45593644 Benign
47021 Q6ZN16 (MAP3K15) A T 192 rs5909299 Benign
47022 Q6ZN16 (MAP3K15) S N 199 rs55916006 Benign
47023 Q6ZN16 (MAP3K15) D H 226 rs56338727 Benign
47024 Q6ZN16 (MAP3K15) S G 456 rs56212339 Benign
47025 Q6ZN16 (MAP3K15) R C 494 rs41305349 Benign
47026 Q6ZN16 (MAP3K15) G S 838 rs56381411 Benign
47027 Q6ZN16 (MAP3K15) S L 993 rs56233219 Benign
47028 Q6ZN16 (MAP3K15) N H 1029 rs55787622 Benign
47029 Q6ZN16 (MAP3K15) Q E 1251 rs15943 Benign
47030 Q6ZN28 (MACC1) L V 31 rs4721888 Benign
47031 Q6ZN28 (MACC1) P L 50 rs17142503 Benign
47032 Q6ZN28 (MACC1) S L 515 rs975263 Benign
47033 Q6ZN28 (MACC1) E A 728 rs12671170 Benign
47034 Q6ZN28 (MACC1) R T 804 rs3735615 Benign
47035 Q6ZN30 (BNC2) L V 550 rs4961490 Benign
47036 Q6ZN30 (BNC2) T A 782 rs3739714 Benign
47037 Q6ZN30 (BNC2) H R 888 - Disease: Lower urinary tract obstruction, congenital (LUTO) [MIM:618612]
47038 Q6ZN32 (ETV3L) S A 19 rs16838078 Benign
47039 Q6ZN32 (ETV3L) R W 151 rs12083811 Benign
47040 Q6ZN32 (ETV3L) G A 263 rs12136960 Benign
47041 Q6ZN32 (ETV3L) M V 318 rs12126791 Benign
47042 Q6ZN54 (DEF8) Q E 90 rs7194844 Benign
47043 Q6ZN55 (ZNF574) R Q 332 rs3745226 Benign
47044 Q6ZN55 (ZNF574) T S 711 rs35898322 Benign
47045 Q6ZN55 (ZNF574) R Q 785 rs3745228 Benign
47046 Q6ZN57 (ZFP2) Q H 113 rs28678700 Benign
47047 Q6ZN57 (ZFP2) R G 142 rs11956147 Benign
47048 Q6ZN66 (GBP6) T I 278 rs4582772 Benign
47049 Q6ZN66 (GBP6) A S 331 rs4658359 Benign
47050 Q6ZN66 (GBP6) L F 344 rs4658360 Benign
47051 Q6ZN66 (GBP6) M V 355 rs4658146 Benign
47052 Q6ZN66 (GBP6) D V 520 rs959460 Benign
47053 Q6ZN68 (DPY19L2P2) M V 66 rs7796589 Benign
47054 Q6ZN68 (DPY19L2P2) N I 333 rs17136078 Benign
47055 Q6ZN79 (ZNF705A) T A 126 rs10743251 Benign
47056 Q6ZN79 (ZNF705A) R C 134 rs10743252 Benign
47057 Q6ZN79 (ZNF705A) K Q 142 rs10743253 Benign
47058 Q6ZN79 (ZNF705A) R H 186 rs11043758 Benign
47059 Q6ZN84 (CCDC81) Y C 449 rs3741005 Benign
47060 Q6ZNA1 (ZNF836) M I 219 rs1366245 Benign
47061 Q6ZNA1 (ZNF836) N S 809 rs8113504 Benign
47062 Q6ZNA4 (RNF111) N K 9 rs2899642 Benign
47063 Q6ZNA4 (RNF111) A T 718 rs34086812 Benign
47064 Q6ZNB6 (NFXL1) P L 246 rs12651301 Benign
47065 Q6ZNB7 (AGMO) F L 279 rs58564185 Benign
47066 Q6ZNB7 (AGMO) S Y 280 rs59160822 Benign
47067 Q6ZNC4 (ZNF704) A S 35 rs3907424 Benign
47068 Q6ZNC8 (MBOAT1) I V 450 rs2065649 Benign
47069 Q6ZNE5 (ATG14) V I 59 rs57295720 Benign
47070 Q6ZNE5 (ATG14) N K 131 rs17675076 Benign
47071 Q6ZNG1 (ZNF600) M V 2 rs7252818 Benign
47072 Q6ZNG1 (ZNF600) T R 13 rs7252128 Benign
47073 Q6ZNG1 (ZNF600) C R 209 rs1820128 Benign
47074 Q6ZNG2 (DBX2) M V 171 rs2731038 Benign
47075 Q6ZNG9 (KRBA2) T M 435 rs370752 Benign
47076 Q6ZNH5 (ZNF497) H Q 174 rs12609654 Benign
47077 Q6ZNI0 (GCNT7) D E 352 rs34552628 Benign
47078 Q6ZNI0 (GCNT7) N H 425 rs3746627 Benign
47079 Q6ZNJ1 (NBEAL2) I V 86 rs754407148 Benign
47080 Q6ZNJ1 (NBEAL2) L P 388 rs387907113 Disease: Gray platelet syndrome (GPS) [MIM:139090]
47081 Q6ZNJ1 (NBEAL2) R H 447 rs17079425 Benign
47082 Q6ZNJ1 (NBEAL2) R G 511 rs11720139 Benign
47083 Q6ZNJ1 (NBEAL2) E V 643 rs387907114 Disease: Gray platelet syndrome (GPS) [MIM:139090]
47084 Q6ZNJ1 (NBEAL2) W R 677 - Disease: Gray platelet syndrome (GPS) [MIM:139090]
47085 Q6ZNJ1 (NBEAL2) I F 682 rs773164015 Benign
47086 Q6ZNJ1 (NBEAL2) E K 1833 rs1341020147 Disease: Gray platelet syndrome (GPS) [MIM:139090]
47087 Q6ZNJ1 (NBEAL2) R C 1839 rs750160418 Disease: Gray platelet syndrome (GPS) [MIM:139090]
47088 Q6ZNJ1 (NBEAL2) A G 1877 rs4682830 Benign
47089 Q6ZNJ1 (NBEAL2) S F 2054 rs2305637 Benign
47090 Q6ZNJ1 (NBEAL2) P L 2100 rs387907115 Disease: Gray platelet syndrome (GPS) [MIM:139090]
47091 Q6ZNJ1 (NBEAL2) H Y 2263 rs1357067113 Disease: Gray platelet syndrome (GPS) [MIM:139090]
47092 Q6ZNJ1 (NBEAL2) S L 2269 rs749896920 Disease: Gray platelet syndrome (GPS) [MIM:139090]
47093 Q6ZNJ1 (NBEAL2) G E 2553 rs144664865 Benign
47094 Q6ZNJ1 (NBEAL2) E K 2747 rs12893 Benign
47095 Q6ZNL6 (FGD5) G R 403 rs7636593 Benign
47096 Q6ZNL6 (FGD5) A T 828 rs17038795 Benign
47097 Q6ZNL6 (FGD5) E K 941 rs2307092 Benign
47098 Q6ZNQ3 (LRRC69) T I 64 rs11785003 Benign
47099 Q6ZNW5 (GDPGP1) M T 37 rs7171194 Benign
47100 Q6ZNW5 (GDPGP1) P T 264 rs10152994 Benign
47101 Q6ZNW5 (GDPGP1) T I 307 rs10153004 Benign
47102 Q6ZP01 (RBM44) D H 52 rs13393001 Benign
47103 Q6ZP01 (RBM44) D H 53 rs13393001 Benign
47104 Q6ZP01 (RBM44) N H 893 rs10186505 Benign
47105 Q6ZP29 (SLC66A1) S N 16 rs12140547 Benign
47106 Q6ZP80 (TMEM182) W R 223 rs887987 Benign
47107 Q6ZP82 (CCDC141) R W 828 rs12988301 Benign
47108 Q6ZP82 (CCDC141) R W 935 rs17362588 Benign
47109 Q6ZP82 (CCDC141) N S 1170 rs13419085 Benign
47110 Q6ZPD9 (DPY19L3) M V 350 rs8105178 Benign
47111 Q6ZQQ6 (WDR87) H Y 496 rs12104280 Benign
47112 Q6ZQQ6 (WDR87) R Q 1583 rs6508750 Benign
47113 Q6ZQQ6 (WDR87) N K 1885 rs10422056 Benign
47114 Q6ZQQ6 (WDR87) H L 2570 rs10408510 Benign
47115 Q6ZQR2 (CFAP77) G R 137 rs7047726 Benign
47116 Q6ZQR2 (CFAP77) R H 184 rs11243798 Benign
47117 Q6ZQR2 (CFAP77) K Q 244 rs34650498 Benign
47118 Q6ZQW0 (IDO2) R W 248 rs10109853 Benign
47119 Q6ZQX7 (LIAT1) E K 56 rs4581766 Benign
47120 Q6ZQX7 (LIAT1) D E 220 rs35229416 Benign
47121 Q6ZQY2 (LRRC74B) G R 3 rs12170538 Benign
47122 Q6ZQY2 (LRRC74B) R C 77 rs9620774 Benign
47123 Q6ZR08 (DNAH12) V A 32 rs9311651 Benign
47124 Q6ZR08 (DNAH12) S N 139 rs6778837 Benign
47125 Q6ZR08 (DNAH12) D E 224 rs6445902 Benign
47126 Q6ZR08 (DNAH12) T A 231 rs7629743 Benign
47127 Q6ZR08 (DNAH12) T P 467 rs6806444 Benign
47128 Q6ZR08 (DNAH12) D N 1549 rs6773904 Benign
47129 Q6ZR08 (DNAH12) Y H 1704 rs4462937 Benign
47130 Q6ZR08 (DNAH12) R C 1748 rs17050836 Benign
47131 Q6ZR08 (DNAH12) K N 1754 rs17793014 Benign
47132 Q6ZR08 (DNAH12) T I 1763 rs4681982 Benign
47133 Q6ZR08 (DNAH12) Y F 2740 rs17057989 Benign
47134 Q6ZR08 (DNAH12) G S 2893 rs4060726 Benign
47135 Q6ZR37 (PLEKHG7) D G 99 rs17790310 Benign
47136 Q6ZR37 (PLEKHG7) M T 212 rs924326 Benign
47137 Q6ZR52 (ZNF493) C F 195 rs4621113 Benign
47138 Q6ZR52 (ZNF493) L V 292 rs10414834 Benign
47139 Q6ZR62 (RTL4) L P 27 rs6568050 Benign
47140 Q6ZR62 (RTL4) D Y 162 rs7474140 Benign
47141 Q6ZRC1 (C4orf50) R W 86 rs16837960 Benign
47142 Q6ZRC1 (C4orf50) I V 177 rs6839295 Benign
47143 Q6ZRC1 (C4orf50) V M 199 rs7695618 Benign
47144 Q6ZRF7 (ZNF818P) E K 14 rs10853858 Benign
47145 Q6ZRF8 (RNF207) A T 421 rs12073329 Benign
47146 Q6ZRF8 (RNF207) R C 539 rs55823245 Benign
47147 Q6ZRF8 (RNF207) N S 573 rs709209 Benign
47148 Q6ZRF8 (RNF207) G A 603 rs846111 Benign
47149 Q6ZRH7 (CATSPERG) L P 29 rs2302182 Benign
47150 Q6ZRH7 (CATSPERG) S R 650 rs3745953 Benign
47151 Q6ZRH7 (CATSPERG) M T 1137 rs2286550 Benign
47152 Q6ZRI0 (OTOG) T S 375 rs7130190 Benign
47153 Q6ZRI0 (OTOG) A D 391 rs61611064 Benign
47154 Q6ZRI0 (OTOG) T M 659 rs7112749 Benign
47155 Q6ZRI0 (OTOG) S P 692 rs7106548 Benign
47156 Q6ZRI0 (OTOG) A T 919 rs2355466 Benign
47157 Q6ZRI0 (OTOG) R Q 1075 rs11024333 Benign
47158 Q6ZRI0 (OTOG) A V 1112 rs7936324 Benign
47159 Q6ZRI0 (OTOG) P L 1129 rs7936354 Benign
47160 Q6ZRI0 (OTOG) A G 1399 rs4491195 Benign
47161 Q6ZRI0 (OTOG) P L 1646 rs2041028 Benign
47162 Q6ZRI0 (OTOG) A V 1832 rs1003490 Benign
47163 Q6ZRI0 (OTOG) T M 1947 rs7111528 Benign
47164 Q6ZRI0 (OTOG) A V 2006 rs11024341 Benign
47165 Q6ZRI0 (OTOG) P L 2116 rs397514607 Disease: Deafness, autosomal recessive, 18B (DFNB18B) [MIM:614945]
47166 Q6ZRI0 (OTOG) R Q 2750 rs12422210 Benign
47167 Q6ZRI0 (OTOG) W S 2909 rs11024357 Benign
47168 Q6ZRI6 (C15orf39) A P 119 rs1873379 Benign
47169 Q6ZRI6 (C15orf39) G D 491 rs11072532 Benign
47170 Q6ZRI6 (C15orf39) S A 536 rs28509789 Benign
47171 Q6ZRI6 (C15orf39) G D 945 rs3743211 Benign
47172 Q6ZRM9 (-) A V 149 rs12667117 Benign
47173 Q6ZRM9 (-) V M 158 rs12671601 Benign
47174 Q6ZRM9 (-) F L 205 rs10274643 Benign
47175 Q6ZRN7 (-) A G 108 rs7206805 Benign
47176 Q6ZRP5 (-) R H 2 rs11944677 Benign
47177 Q6ZRP7 (QSOX2) K E 126 rs12380852 Benign
47178 Q6ZRQ5 (MMS22L) N D 419 rs9374435 Benign
47179 Q6ZRQ5 (MMS22L) T M 564 rs9481410 Benign
47180 Q6ZRQ5 (MMS22L) V A 875 rs1737145 Benign
47181 Q6ZRQ5 (MMS22L) P L 1015 rs10484830 Benign
47182 Q6ZRS4 (ITPRID1) A D 32 rs7811042 Benign
47183 Q6ZRS4 (ITPRID1) H R 377 rs10252720 Benign
47184 Q6ZRS4 (ITPRID1) A V 490 rs4141001 Benign
47185 Q6ZRS4 (ITPRID1) C Y 809 rs10247620 Benign
47186 Q6ZRS4 (ITPRID1) H Y 887 rs7799540 Benign
47187 Q6ZRV2 (FAM83H) Q H 201 rs9969600 Benign
47188 Q6ZRV2 (FAM83H) G C 557 rs312262803 Disease: Amelogenesis imperfecta 3A (AI3A) [MIM:130900]
47189 Q6ZS02 (DNM1P46) L V 147 rs4965539 Benign
47190 Q6ZS11 (RINL) P L 402 rs8110393 Benign
47191 Q6ZS27 (ZNF662) N S 176 rs60980399 Benign
47192 Q6ZS81 (WDFY4) S P 214 rs7072606 Benign
47193 Q6ZS81 (WDFY4) S F 944 rs12242384 Benign
47194 Q6ZS81 (WDFY4) S N 2527 rs2663046 Benign
47195 Q6ZS82 (RGS9BP) A S 96 rs259290 Benign
47196 Q6ZSB9 (ZBTB49) Y S 320 rs2920217 Benign
47197 Q6ZSB9 (ZBTB49) A T 348 rs4689254 Benign
47198 Q6ZSB9 (ZBTB49) T A 556 rs146575965 Benign
47199 Q6ZSB9 (ZBTB49) A V 642 rs34293093 Benign
47200 Q6ZSC3 (RBM43) I V 259 rs35749426 Benign
47201 Q6ZSG2 (INSYN2A) A V 147 rs11594560 Benign
47202 Q6ZSI9 (CAPN12) C R 287 rs12983010 Benign
47203 Q6ZSS7 (MFSD6) R G 205 rs9646748 Benign
47204 Q6ZST4 (LCNL1) A T 68 rs17578859 Benign
47205 Q6ZSY5 (PPP1R3F) F S 351 rs17148347 Benign
47206 Q6ZSY5 (PPP1R3F) E K 441 - Benign
47207 Q6ZSZ5 (ARHGEF18) T A 458 rs987233144 Disease: Retinitis pigmentosa 78 (RP78) [MIM:617433]
47208 Q6ZSZ5 (ARHGEF18) Q R 889 rs2287918 Benign
47209 Q6ZSZ5 (ARHGEF18) R Q 940 rs2287920 Benign
47210 Q6ZSZ5 (ARHGEF18) N S 1207 rs9329368 Benign
47211 Q6ZSZ6 (TSHZ1) L P 666 rs55679337 Benign
47212 Q6ZT07 (TBC1D9) E K 7 rs13108827 Benign
47213 Q6ZT07 (TBC1D9) E K 779 rs13118702 Benign
47214 Q6ZT77 (ZNF826P) C Y 148 rs7247776 Benign
47215 Q6ZTK2 (-) Q R 100 rs8050530 Benign
47216 Q6ZTK2 (-) Q H 183 rs7206698 Benign
47217 Q6ZTK2 (-) V A 275 rs12932948 Benign
47218 Q6ZTK2 (-) E Q 330 rs12933868 Benign
47219 Q6ZTK2 (-) V I 345 rs13337464 Benign
47220 Q6ZTK2 (-) T A 368 rs4467099 Benign
47221 Q6ZTK2 (-) W R 419 rs4238608 Benign
47222 Q6ZTQ3 (RASSF6) S P 163 rs12507775 Benign
47223 Q6ZTQ3 (RASSF6) A G 306 rs17804499 Benign
47224 Q6ZTQ4 (CDHR3) V M 55 rs35008315 Benign
47225 Q6ZTQ4 (CDHR3) Q H 61 rs34426483 Benign
47226 Q6ZTQ4 (CDHR3) C Y 529 rs6967330 Benign
47227 Q6ZTR5 (CFAP47) V M 236 rs2336029 Benign
47228 Q6ZTR5 (CFAP47) C R 345 rs6632427 Benign
47229 Q6ZTR5 (CFAP47) A T 561 rs11795910 Benign
47230 Q6ZTR5 (CFAP47) H Y 634 rs17852470 Benign
47231 Q6ZTR7 (CIBAR2) E K 22 rs9934891 Benign
47232 Q6ZU35 (CRACD) E Q 249 rs1379374919 Benign
47233 Q6ZU35 (CRACD) L I 269 rs6823339 Benign
47234 Q6ZU35 (CRACD) R P 655 rs7672073 Benign
47235 Q6ZU35 (CRACD) R Q 710 rs3796546 Benign
47236 Q6ZU35 (CRACD) S L 776 rs3796547 Benign
47237 Q6ZU52 (KIAA0408) S R 61 rs3734447 Benign
47238 Q6ZU52 (KIAA0408) S L 331 rs2236026 Benign
47239 Q6ZU64 (CFAP65) M L 66 rs6736922 Benign
47240 Q6ZU64 (CFAP65) V I 672 rs13403802 Benign
47241 Q6ZU64 (CFAP65) K M 806 rs9653262 Benign
47242 Q6ZU64 (CFAP65) N S 1858 rs11893183 Benign
47243 Q6ZU65 (UBN2) P A 1308 rs17160850 Benign
47244 Q6ZU80 (CEP128) R L 16 rs7160694 Benign
47245 Q6ZU80 (CEP128) H R 732 rs327463 Benign
47246 Q6ZUB1 (SPATA31E1) T S 208 rs28510722 Benign
47247 Q6ZUB1 (SPATA31E1) T P 335 rs7850542 Benign
47248 Q6ZUB1 (SPATA31E1) V M 409 rs34946554 Benign
47249 Q6ZUB1 (SPATA31E1) K E 586 rs35232271 Benign
47250 Q6ZUB1 (SPATA31E1) T M 671 rs36079890 Benign
47251 Q6ZUB1 (SPATA31E1) D E 682 rs4076795 Benign
47252 Q6ZUB1 (SPATA31E1) G R 700 rs34017995 Benign
47253 Q6ZUB1 (SPATA31E1) D E 704 rs4076794 Benign
47254 Q6ZUB1 (SPATA31E1) A V 736 rs34791830 Benign
47255 Q6ZUB1 (SPATA31E1) P L 924 rs34051334 Benign
47256 Q6ZUB1 (SPATA31E1) V E 1019 rs10868670 Benign
47257 Q6ZUB1 (SPATA31E1) D G 1202 rs11789780 Benign
47258 Q6ZUB1 (SPATA31E1) R H 1350 rs11142017 Benign
47259 Q6ZUF6 (LINC00336) S R 13 rs7759154 Benign
47260 Q6ZUF6 (LINC00336) L P 73 rs210162 Benign
47261 Q6ZUF6 (LINC00336) P S 84 rs9469517 Benign
47262 Q6ZUJ4 (C3orf62) E K 110 rs13077498 Benign
47263 Q6ZUJ8 (PIK3AP1) E K 21 rs17112076 Benign
47264 Q6ZUJ8 (PIK3AP1) A S 83 rs3748229 Benign
47265 Q6ZUJ8 (PIK3AP1) E K 551 rs3748233 Benign
47266 Q6ZUJ8 (PIK3AP1) K R 638 rs12784975 Benign
47267 Q6ZUL3 (C8orf86) R H 81 rs1378332 Benign
47268 Q6ZUM4 (ARHGAP27) H Q 889 rs117139057 Benign
47269 Q6ZUT3 (FRMD7) F S 16 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47270 Q6ZUT3 (FRMD7) G E 24 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47271 Q6ZUT3 (FRMD7) G R 24 rs137852210 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47272 Q6ZUT3 (FRMD7) G W 24 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47273 Q6ZUT3 (FRMD7) L R 142 rs137852211 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47274 Q6ZUT3 (FRMD7) R W 146 rs780995406 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47275 Q6ZUT3 (FRMD7) H R 208 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47276 Q6ZUT3 (FRMD7) L P 212 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47277 Q6ZUT3 (FRMD7) N D 221 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47278 Q6ZUT3 (FRMD7) W G 225 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47279 Q6ZUT3 (FRMD7) A T 226 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47280 Q6ZUT3 (FRMD7) R C 229 rs137852212 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47281 Q6ZUT3 (FRMD7) R G 229 rs137852212 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47282 Q6ZUT3 (FRMD7) L V 231 rs387906720 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47283 Q6ZUT3 (FRMD7) R G 261 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47284 Q6ZUT3 (FRMD7) R Q 261 rs1332489637 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47285 Q6ZUT3 (FRMD7) A P 266 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47286 Q6ZUT3 (FRMD7) C F 271 rs387906721 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47287 Q6ZUT3 (FRMD7) C S 271 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47288 Q6ZUT3 (FRMD7) C Y 271 rs387906721 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47289 Q6ZUT3 (FRMD7) H P 275 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47290 Q6ZUT3 (FRMD7) S L 281 rs5977625 Benign
47291 Q6ZUT3 (FRMD7) G R 296 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47292 Q6ZUT3 (FRMD7) Y C 301 rs1297486092 Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47293 Q6ZUT3 (FRMD7) Q R 306 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47294 Q6ZUT3 (FRMD7) S L 340 - Disease: Nystagmus congenital X-linked 1 (NYS1) [MIM:310700]
47295 Q6ZUT3 (FRMD7) R H 468 rs6637934 Benign
47296 Q6ZUT9 (DENND5B) R K 52 rs4930979 Benign
47297 Q6ZUT9 (DENND5B) H N 487 rs1056320 Benign
47298 Q6ZUX3 (TOGARAM2) A T 55 rs13009279 Benign
47299 Q6ZUX3 (TOGARAM2) Q R 265 rs12623297 Benign
47300 Q6ZUX3 (TOGARAM2) Q R 362 rs11127202 Benign
47301 Q6ZUX3 (TOGARAM2) I V 441 rs1109758 Benign
47302 Q6ZUX3 (TOGARAM2) V A 535 rs6721861 Benign
47303 Q6ZUX3 (TOGARAM2) R C 724 rs60403047 Benign
47304 Q6ZUX3 (TOGARAM2) T A 941 rs895591 Benign
47305 Q6ZUX3 (TOGARAM2) G V 944 rs7577483 Benign
47306 Q6ZUX7 (LHFPL2) I V 102 rs2303654 Benign
47307 Q6ZV29 (PNPLA7) R H 236 rs12788 Benign
47308 Q6ZV29 (PNPLA7) G S 286 rs2298171 Benign
47309 Q6ZV29 (PNPLA7) R Q 323 rs11137410 Benign
47310 Q6ZV29 (PNPLA7) Q E 364 rs3750378 Benign
47311 Q6ZV29 (PNPLA7) E D 368 rs3750379 Benign
47312 Q6ZV29 (PNPLA7) G S 387 rs11791683 Benign
47313 Q6ZV29 (PNPLA7) A V 803 rs1891630 Benign
47314 Q6ZV29 (PNPLA7) V M 824 rs34938599 Benign
47315 Q6ZV29 (PNPLA7) P L 908 rs3812499 Benign
47316 Q6ZV29 (PNPLA7) L M 993 rs35177111 Benign
47317 Q6ZV29 (PNPLA7) D N 1050 rs4962237 Benign
47318 Q6ZV73 (FGD6) Q R 257 rs10507047 Benign
47319 Q6ZV73 (FGD6) E K 1393 rs3794255 Benign
47320 Q6ZV77 (C9orf139) K E 168 rs12337910 Benign
47321 Q6ZVD7 (STOX1) R P 18 rs556362193 Disease: Pre-eclampsi a/eclampsia 4 (PEE4) [MIM:609404]
47322 Q6ZVD7 (STOX1) Y H 153 rs1341667 Benign
47323 Q6ZVD7 (STOX1) E D 608 rs10509305 Benign
47324 Q6ZVD7 (STOX1) N I 825 rs41278532 Disease: Pre-eclampsi a/eclampsia 4 (PEE4) [MIM:609404]
47325 Q6ZVD7 (STOX1) A T 863 rs7904300 Benign
47326 Q6ZVF9 (GPRIN3) L V 39 rs11734353 Benign
47327 Q6ZVF9 (GPRIN3) A V 378 rs6811370 Benign
47328 Q6ZVF9 (GPRIN3) S P 382 rs28622301 Benign
47329 Q6ZVF9 (GPRIN3) P S 390 rs11733183 Benign
47330 Q6ZVF9 (GPRIN3) V A 446 rs7653897 Benign
47331 Q6ZVF9 (GPRIN3) R K 746 rs17015286 Benign
47332 Q6ZVH7 (ESPNL) R Q 167 rs34046909 Benign
47333 Q6ZVH7 (ESPNL) I V 568 rs13033248 Benign
47334 Q6ZVH7 (ESPNL) A S 574 rs13006204 Benign
47335 Q6ZVH7 (ESPNL) V A 761 rs4663845 Benign
47336 Q6ZVH7 (ESPNL) Q R 829 rs10172220 Benign
47337 Q6ZVL8 (-) T A 30 rs8060538 Benign
47338 Q6ZVL8 (-) G R 75 rs8055082 Benign
47339 Q6ZVL8 (-) K R 82 rs9940490 Benign
47340 Q6ZVL8 (-) P S 105 rs8053661 Benign
47341 Q6ZVL8 (-) C S 136 rs8055382 Benign
47342 Q6ZVN8 (HJV) C R 80 rs28940586 Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47343 Q6ZVN8 (HJV) S P 85 - Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47344 Q6ZVN8 (HJV) G R 99 - Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47345 Q6ZVN8 (HJV) L P 101 rs74315327 Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47346 Q6ZVN8 (HJV) A D 168 rs782125244 Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47347 Q6ZVN8 (HJV) F S 170 - Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47348 Q6ZVN8 (HJV) D E 172 rs782708481 Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47349 Q6ZVN8 (HJV) W C 191 - Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47350 Q6ZVN8 (HJV) S R 205 - Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47351 Q6ZVN8 (HJV) I N 222 rs74315325 Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47352 Q6ZVN8 (HJV) G V 250 rs863224819 Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47353 Q6ZVN8 (HJV) R W 288 - Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47354 Q6ZVN8 (HJV) A G 310 rs7540883 Benign
47355 Q6ZVN8 (HJV) G V 320 rs74315323 Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47356 Q6ZVN8 (HJV) C W 321 rs121434374 Disease: Hemochromato sis 2A (HFE2A) [MIM:602390]
47357 Q6ZVT0 (TTLL10) V A 249 rs13374146 Benign
47358 Q6ZVT0 (TTLL10) S N 448 rs1320571 Benign
47359 Q6ZVT0 (TTLL10) G D 578 rs2274791 Benign
47360 Q6ZVT6 (CFAP20DC) S R 158 rs13324082 Benign
47361 Q6ZVT6 (CFAP20DC) D E 304 rs35778488 Benign
47362 Q6ZVT6 (CFAP20DC) V M 387 rs34631714 Benign
47363 Q6ZVT6 (CFAP20DC) S N 404 rs34322986 Benign
47364 Q6ZVW7 (IL17REL) G R 70 rs9617090 Benign
47365 Q6ZVW7 (IL17REL) L P 333 rs5771069 Benign
47366 Q6ZVZ8 (ASB18) A T 104 rs6756597 Benign
47367 Q6ZVZ8 (ASB18) A P 127 rs7588748 Benign
47368 Q6ZVZ8 (ASB18) G S 261 rs6431437 Benign
47369 Q6ZVZ8 (ASB18) H N 407 rs10177957 Benign
47370 Q6ZW33 (MICALCL) V I 70 rs10741578 Benign
47371 Q6ZW33 (MICALCL) Y S 93 rs12574273 Benign
47372 Q6ZW33 (MICALCL) A T 305 rs1493953 Benign
47373 Q6ZW33 (MICALCL) S G 313 rs1493954 Benign
47374 Q6ZW33 (MICALCL) D E 369 rs3812753 Benign
47375 Q6ZW33 (MICALCL) T P 471 rs3812754 Benign
47376 Q6ZW49 (PAXIP1) M V 1013 rs3501 Benign
47377 Q6ZW61 (BBS12) I T 39 rs138036823 Benign
47378 Q6ZW61 (BBS12) L R 88 rs746271266 Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47379 Q6ZW61 (BBS12) G S 119 rs77731085 Benign
47380 Q6ZW61 (BBS12) E D 126 rs309369 Benign
47381 Q6ZW61 (BBS12) I V 170 rs1218692709 Benign
47382 Q6ZW61 (BBS12) K R 195 rs17854892 Benign
47383 Q6ZW61 (BBS12) N K 238 rs17006082 Benign
47384 Q6ZW61 (BBS12) Y H 263 rs150040166 Benign
47385 Q6ZW61 (BBS12) A P 289 rs121918328 Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47386 Q6ZW61 (BBS12) Q E 293 - Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47387 Q6ZW61 (BBS12) I T 346 rs1553941373 Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47388 Q6ZW61 (BBS12) R Q 355 rs1474900361 Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47389 Q6ZW61 (BBS12) R Q 386 rs309370 Benign
47390 Q6ZW61 (BBS12) V M 400 rs771136797 Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47391 Q6ZW61 (BBS12) S T 429 rs7665271 Benign
47392 Q6ZW61 (BBS12) N H 461 rs10027479 Benign
47393 Q6ZW61 (BBS12) D N 467 rs13135778 Benign
47394 Q6ZW61 (BBS12) R K 484 rs35690634 Benign
47395 Q6ZW61 (BBS12) T M 501 rs138011813 Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47396 Q6ZW61 (BBS12) G D 539 - Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47397 Q6ZW61 (BBS12) G V 540 rs1010403072 Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47398 Q6ZW61 (BBS12) A V 615 rs17857451 Benign
47399 Q6ZW61 (BBS12) R C 674 rs759088490 Disease: Bardet-Biedl syndrome 12 (BBS12) [MIM:615989]
47400 Q6ZW76 (ANKS3) A T 404 rs863980 Benign
47401 Q6ZW76 (ANKS3) A T 593 rs9936675 Benign
47402 Q6ZWB6 (KCTD8) P L 329 rs13115990 Benign
47403 Q6ZWH5 (NEK10) F L 50 rs56125830 Benign
47404 Q6ZWH5 (NEK10) G S 67 rs55958314 Benign
47405 Q6ZWH5 (NEK10) L S 513 rs10510592 Benign
47406 Q6ZWH5 (NEK10) N S 659 rs55833401 Benign
47407 Q6ZWH5 (NEK10) L V 701 rs34313679 Benign
47408 Q6ZWI9 (RFPL4B) G D 234 rs11153361 Benign
47409 Q6ZWJ1 (STXBP4) G R 92 rs1156287 Benign
47410 Q6ZWJ1 (STXBP4) C R 120 rs34870302 Benign
47411 Q6ZWJ8 (KCP) G E 47 rs7787221 Benign
47412 Q6ZWJ8 (KCP) K E 459 rs7782976 Benign
47413 Q6ZWJ8 (KCP) D V 688 rs3734971 Benign
47414 Q6ZWJ8 (KCP) P R 1193 rs7786641 Benign
47415 Q6ZWK6 (TMPRSS11F) A T 4 rs10030708 Benign
47416 Q6ZWK6 (TMPRSS11F) D N 124 rs1438391 Benign
47417 Q6ZWL3 (CYP4V2) L V 22 rs1055138 Benign
47418 Q6ZWL3 (CYP4V2) W R 44 rs119103282 Disease: Bietti crystalline corneoretina l dystrophy (BCD) [MIM:210370]
47419 Q6ZWL3 (CYP4V2) G S 61 rs119103285 Disease: Bietti crystalline corneoretina l dystrophy (BCD) [MIM:210370]
47420 Q6ZWL3 (CYP4V2) E D 79 rs199476185 Disease: Bietti crystalline corneoretina l dystrophy (BCD) [MIM:210370]
47421 Q6ZWL3 (CYP4V2) I T 111 rs119103283 Disease: Bietti crystalline corneoretina l dystrophy (BCD) [MIM:210370]
47422 Q6ZWL3 (CYP4V2) M V 123 rs149684063 Disease: Bietti crystalline corneoretina l dystrophy (BCD) [MIM:210370]
47423 Q6ZWL3 (CYP4V2) S N 213 rs34331648 Benign
47424 Q6ZWL3 (CYP4V2) Q K 259 rs13146272 Benign
47425 Q6ZWL3 (CYP4V2) E K 275 rs34745240 Benign
47426 Q6ZWL3 (CYP4V2) H P 331 rs199476197 Disease: Bietti crystalline corneoretina l dystrophy (BCD) [MIM:210370]
47427 Q6ZWL3 (CYP4V2) S P 341 rs199476199 Disease: Bietti crystalline corneoretina l dystrophy (BCD) [MIM:210370]
47428 Q6ZWL3 (CYP4V2) V I 372 rs61755911 Benign
47429 Q6ZWL3 (CYP4V2) R Q 443 rs72646291 Benign
47430 Q6ZWL3 (CYP4V2) R H 508 rs119103284 Disease: Bietti crystalline corneoretina l dystrophy (BCD) [MIM:210370]
47431 Q6ZWT7 (MBOAT2) T A 501 rs16866827 Benign
47432 Q6ZXV5 (TMTC3) H D 67 - Disease: Lissencephal y 8 (LIS8) [MIM:617255]
47433 Q6ZXV5 (TMTC3) G E 384 - Disease: Lissencephal y 8 (LIS8) [MIM:617255]
47434 Q6ZYL4 (GTF2H5) L P 21 rs121434365 Disease: Trichothiody strophy 3, photosensiti ve (TTD3) [MIM:616395]
47435 Q702N8 (XIRP1) D N 3 rs2271488 Benign
47436 Q702N8 (XIRP1) Q R 346 rs6805248 Benign
47437 Q702N8 (XIRP1) R Q 551 rs34121641 Benign
47438 Q702N8 (XIRP1) R C 695 rs60540208 Benign
47439 Q702N8 (XIRP1) R W 776 rs9823779 Benign
47440 Q702N8 (XIRP1) H P 965 rs11711871 Benign
47441 Q702N8 (XIRP1) P A 1046 rs35649793 Benign
47442 Q702N8 (XIRP1) A V 1061 rs35795536 Benign
47443 Q702N8 (XIRP1) G R 1604 rs3732383 Benign
47444 Q702N8 (XIRP1) A V 1608 rs34810344 Benign
47445 Q702N8 (XIRP1) Q H 1707 rs34053674 Benign
47446 Q702N8 (XIRP1) I V 1724 rs9827576 Benign
47447 Q709C8 (VPS13C) R H 153 rs12595158 Benign
47448 Q709C8 (VPS13C) R K 974 rs3784634 Benign
47449 Q709C8 (VPS13C) I V 1132 rs3784635 Benign
47450 Q709C8 (VPS13C) Y C 1302 rs2303405 Benign
47451 Q709C8 (VPS13C) G R 1389 rs369100678 Disease: Parkinson disease 23, autosomal recessive, early onset (PARK23) [MIM:616840]
47452 Q709C8 (VPS13C) T A 1485 rs8026956 Benign
47453 Q709C8 (VPS13C) I V 1495 rs11629598 Benign
47454 Q709C8 (VPS13C) S Y 1592 rs11629838 Benign
47455 Q709C8 (VPS13C) V M 2322 rs12907567 Benign
47456 Q709C8 (VPS13C) K R 2808 rs34060567 Benign
47457 Q709C8 (VPS13C) C F 2872 - Benign
47458 Q709C8 (VPS13C) S N 2913 rs10851704 Benign
47459 Q709F0 (ACAD11) V L 362 rs6776576 Benign
47460 Q70CQ2 (USP34) M T 661 rs6722430 Benign
47461 Q70CQ2 (USP34) L R 1663 rs6723818 Benign
47462 Q70CQ2 (USP34) D N 2348 rs4386306 Benign
47463 Q70CQ3 (USP30) H R 357 rs16939904 Benign
47464 Q70CQ4 (USP31) D Y 445 rs1978066 Benign
47465 Q70CQ4 (USP31) Q H 532 rs4597335 Benign
47466 Q70CQ4 (USP31) I T 538 rs13339649 Benign
47467 Q70CQ4 (USP31) A T 552 rs9932912 Benign
47468 Q70CQ4 (USP31) R L 931 rs10083789 Benign
47469 Q70CQ4 (USP31) D N 1269 rs35541113 Benign
47470 Q70CQ4 (USP31) R C 1309 rs35254998 Benign
47471 Q70EK8 (USP53) S R 962 rs3749591 Benign
47472 Q70EL1 (USP54) K E 976 rs1618542 Benign
47473 Q70EL1 (USP54) D N 1231 rs4619071 Benign
47474 Q70EL1 (USP54) G D 1367 rs7083344 Benign
47475 Q70EL2 (USP45) K E 67 rs7744845 Benign
47476 Q70EL2 (USP45) R T 521 rs41288947 Benign
47477 Q70EL2 (USP45) N S 778 rs6570065 Benign
47478 Q70HW3 (SLC25A26) S N 41 rs146159281 Benign
47479 Q70HW3 (SLC25A26) A V 102 rs869025314 Disease: Combined oxidative phosphorylat ion deficiency 28 (COXPD28) [MIM:616794]
47480 Q70HW3 (SLC25A26) V G 148 rs869025313 Disease: Combined oxidative phosphorylat ion deficiency 28 (COXPD28) [MIM:616794]
47481 Q70HW3 (SLC25A26) P L 199 rs869025315 Disease: Combined oxidative phosphorylat ion deficiency 28 (COXPD28) [MIM:616794]
47482 Q70HW3 (SLC25A26) T M 208 rs13874 Benign
47483 Q70J99 (UNC13D) A T 59 rs9904366 Benign
47484 Q70J99 (UNC13D) H Q 858 rs17496835 Benign
47485 Q70J99 (UNC13D) K E 867 rs1135688 Benign
47486 Q70JA7 (CHSY3) G E 615 rs10068403 Benign
47487 Q70JA7 (CHSY3) D G 764 rs2015018 Benign
47488 Q70SY1 (CREB3L2) V I 130 rs273957 Benign
47489 Q70UQ0 (IKBIP) G S 265 rs1048906 Benign
47490 Q70YC4 (ZNF365) T A 62 rs7076156 Benign
47491 Q70YC5 (ZNF365) A S 337 rs3758490 Benign
47492 Q70Z35 (PREX2) D N 312 rs11784582 Benign
47493 Q70Z44 (HTR3D) A G 171 rs6443930 Benign
47494 Q70Z44 (HTR3D) R H 225 rs1000952 Benign
47495 Q70Z44 (HTR3D) R H 435 rs6789754 Benign
47496 Q70Z53 (FRA10AC1) R H 16 rs726817 Benign
47497 Q70Z53 (FRA10AC1) T R 78 rs2275438 Benign
47498 Q70Z53 (FRA10AC1) S F 251 rs11187583 Benign
47499 Q711Q0 (CEFIP) N K 208 rs4838383 Benign
47500 Q711Q0 (CEFIP) R L 320 rs56206226 Benign
47501 Q711Q0 (CEFIP) D A 461 rs45554335 Benign
47502 Q711Q0 (CEFIP) V G 522 rs61453891 Benign
47503 Q711Q0 (CEFIP) H Q 666 rs10857469 Benign
47504 Q711Q0 (CEFIP) F S 698 rs7921186 Benign
47505 Q711Q0 (CEFIP) D G 741 rs11101093 Benign
47506 Q711Q0 (CEFIP) D N 883 rs12217617 Benign
47507 Q711Q0 (CEFIP) F Y 958 rs10857470 Benign
47508 Q711Q0 (CEFIP) G A 1084 rs11101094 Benign
47509 Q711Q0 (CEFIP) V I 1254 rs11101095 Benign
47510 Q711Q0 (CEFIP) G S 1337 rs10857472 Benign
47511 Q719H9 (KCTD1) A E 30 rs587776998 Disease: Scalp-ear- nipple syndrome (SENS) [MIM:181270]
47512 Q719H9 (KCTD1) P L 31 rs587776999 Disease: Scalp-ear- nipple syndrome (SENS) [MIM:181270]
47513 Q719H9 (KCTD1) P R 31 rs587776999 Disease: Scalp-ear- nipple syndrome (SENS) [MIM:181270]
47514 Q719H9 (KCTD1) P S 31 - Disease: Scalp-ear- nipple syndrome (SENS) [MIM:181270]
47515 Q719H9 (KCTD1) H P 33 rs587777001 Disease: Scalp-ear- nipple syndrome (SENS) [MIM:181270]
47516 Q719H9 (KCTD1) H Q 33 rs587777000 Disease: Scalp-ear- nipple syndrome (SENS) [MIM:181270]
47517 Q719H9 (KCTD1) G D 62 rs587777003 Disease: Scalp-ear- nipple syndrome (SENS) [MIM:181270]
47518 Q719H9 (KCTD1) H P 74 rs587777002 Disease: Scalp-ear- nipple syndrome (SENS) [MIM:181270]
47519 Q719H9 (KCTD1) L W 107 rs491684 Benign
47520 Q71DI3 (H3C15) M T 91 rs2664732 Benign
47521 Q71DI3 (H3C15) A V 128 rs2664731 Benign
47522 Q71F23 (CENPU) G R 16 rs902174 Benign
47523 Q71F23 (CENPU) G S 16 rs902174 Benign
47524 Q71F23 (CENPU) I T 157 rs6552804 Benign
47525 Q71F23 (CENPU) I M 214 rs4616798 Benign
47526 Q71F23 (CENPU) A T 279 rs34007339 Benign
47527 Q71F56 (MED13L) E G 251 rs28940309 Disease: Transpositio n of the great arteries dextro- looped 1 (DTGA1) [MIM:608808]
47528 Q71F56 (MED13L) R H 1872 rs28940310 Disease: Transpositio n of the great arteries dextro- looped 1 (DTGA1) [MIM:608808]
47529 Q71F56 (MED13L) D G 2023 rs121918333 Disease: Transpositio n of the great arteries dextro- looped 1 (DTGA1) [MIM:608808]
47530 Q71H61 (ILDR2) V I 202 rs33958744 Benign
47531 Q71RC2 (LARP4) F L 351 rs17124706 Benign
47532 Q71RC2 (LARP4) N T 502 rs17124715 Benign
47533 Q71RG4 (TMUB2) R H 228 rs9895154 Benign
47534 Q71RS6 (SLC24A5) T A 111 rs1426654 Benign
47535 Q71SY5 (MED25) Y C 39 rs794729668 Disease: Basel- Vanagaite- Smirin-Yosef syndrome (BVSYS) [MIM:616449]
47536 Q71SY5 (MED25) A V 335 rs145770066 Disease: Charcot- Marie-Tooth disease 2B2 (CMT2B2) [MIM:605589]
47537 Q71U36 (TUBA1A) I L 188 rs137853045 Disease: Lissencephal y 3 (LIS3) [MIM:611603]
47538 Q71U36 (TUBA1A) P T 263 rs137853046 Disease: Lissencephal y 3 (LIS3) [MIM:611603]
47539 Q71U36 (TUBA1A) R C 264 rs137853043 Disease: Lissencephal y 3 (LIS3) [MIM:611603]
47540 Q71U36 (TUBA1A) L F 286 - Disease: Lissencephal y 3 (LIS3) [MIM:611603]
47541 Q71U36 (TUBA1A) R C 402 rs587784483 Disease: Lissencephal y 3 (LIS3) [MIM:611603]
47542 Q71U36 (TUBA1A) R H 402 rs137853044 Disease: Lissencephal y 3 (LIS3) [MIM:611603]
47543 Q71U36 (TUBA1A) R L 402 rs137853044 Disease: Lissencephal y 3 (LIS3) [MIM:611603]
47544 Q71U36 (TUBA1A) S L 419 rs137853047 Disease: Lissencephal y 3 (LIS3) [MIM:611603]
47545 Q71U36 (TUBA1A) E K 447 rs1065730 Benign
47546 Q71UI9 (H2AZ2) Q R 125 rs1802437 Benign
47547 Q75LS8 (FKBP9P1) V G 125 rs11524166 Benign
47548 Q75MW2 (ZNF767P) H R 31 rs1723718 Benign
47549 Q75MW2 (ZNF767P) Q R 38 rs1723719 Benign
47550 Q75MW2 (ZNF767P) A T 131 rs1808231 Benign
47551 Q75MW2 (ZNF767P) T A 134 rs354055 Benign
47552 Q75N90 (FBN3) G A 119 rs3813773 Benign
47553 Q75N90 (FBN3) P L 329 rs7246376 Benign
47554 Q75N90 (FBN3) M I 371 rs35999680 Benign
47555 Q75N90 (FBN3) R Q 473 rs35277492 Benign
47556 Q75N90 (FBN3) V I 542 rs36124795 Benign
47557 Q75N90 (FBN3) D N 662 rs4804271 Benign
47558 Q75N90 (FBN3) D N 868 rs35025963 Benign
47559 Q75N90 (FBN3) R L 935 - Benign
47560 Q75N90 (FBN3) V F 938 - Benign
47561 Q75N90 (FBN3) R W 1083 rs35579498 Benign
47562 Q75N90 (FBN3) Q R 1209 rs34684510 Benign
47563 Q75N90 (FBN3) S G 1293 rs4804063 Benign
47564 Q75N90 (FBN3) S N 1293 rs4804063 Benign
47565 Q75N90 (FBN3) V I 1326 rs12975322 Benign
47566 Q75N90 (FBN3) N I 1431 rs17160194 Benign
47567 Q75N90 (FBN3) G S 1614 rs33967815 Benign
47568 Q75N90 (FBN3) R Q 1806 rs3829817 Benign
47569 Q75N90 (FBN3) E K 1850 rs10404519 Benign
47570 Q75N90 (FBN3) N K 1869 rs12150963 Benign
47571 Q75N90 (FBN3) L F 1904 rs12608849 Benign
47572 Q75N90 (FBN3) L P 1904 rs12608849 Benign
47573 Q75N90 (FBN3) T N 1939 rs7245558 Benign
47574 Q75N90 (FBN3) P H 1958 rs7245429 Benign
47575 Q75N90 (FBN3) H D 1966 rs34167077 Benign
47576 Q75N90 (FBN3) N T 2005 rs17202741 Benign
47577 Q75N90 (FBN3) S N 2314 rs17160151 Benign
47578 Q75N90 (FBN3) R H 2471 rs3848570 Benign
47579 Q75N90 (FBN3) H Q 2540 rs35477781 Benign
47580 Q75N90 (FBN3) V I 2594 rs35318692 Benign
47581 Q75N90 (FBN3) E D 2610 rs7257948 Benign
47582 Q75QN2 (INTS8) D G 298 - Disease: Neurodevelop mental disorder with cerebellar hypoplasia and spasticity (NEDCHS) [MIM:618572]
47583 Q75V66 (ANO5) L F 322 rs7481951 Benign
47584 Q75V66 (ANO5) C G 356 rs119103234 Disease: Gnathodiaphy seal dysplasia (GDD) [MIM:166260]
47585 Q75V66 (ANO5) C R 356 rs119103234 Disease: Gnathodiaphy seal dysplasia (GDD) [MIM:166260]
47586 Q75V66 (ANO5) C Y 356 - Disease: Gnathodiaphy seal dysplasia (GDD) [MIM:166260]
47587 Q75V66 (ANO5) N K 882 rs34969327 Benign
47588 Q75WM6 (H1-7) R G 84 rs2732441 Benign
47589 Q75WM6 (H1-7) L P 108 rs766280749 Benign
47590 Q75WM6 (H1-7) R S 136 rs752698412 Benign
47591 Q75WM6 (H1-7) R Q 174 rs1471997 Benign
47592 Q75WM6 (H1-7) R Q 195 rs1471997 Benign
47593 Q75WM6 (H1-7) S F 237 rs2291483 Benign
47594 Q765I0 (UTS2B) S I 21 rs6788319 Benign
47595 Q76EJ3 (SLC35D2) A S 184 rs1051763 Benign
47596 Q76FK4 (NOL8) G E 470 rs58545014 Benign
47597 Q76FK4 (NOL8) V L 748 rs2236344 Benign
47598 Q76FK4 (NOL8) D E 841 rs15717 Benign
47599 Q76FK4 (NOL8) E D 988 rs34224798 Benign
47600 Q76FK4 (NOL8) G S 1021 rs921122 Benign
47601 Q76I76 (SSH2) S L 743 rs2289629 Benign
47602 Q76I76 (SSH2) V A 763 rs6505140 Benign
47603 Q76I76 (SSH2) H Q 1300 rs8080046 Benign
47604 Q76KP1 (B4GALNT4) A V 67 rs34063493 Benign
47605 Q76KP1 (B4GALNT4) G V 88 rs11822725 Benign
47606 Q76L83 (ASXL2) L P 731 rs13385963 Benign
47607 Q76L83 (ASXL2) A V 796 rs17854251 Benign
47608 Q76L83 (ASXL2) T P 1210 rs12991178 Benign
47609 Q76L83 (ASXL2) T P 1242 rs12990978 Benign
47610 Q76LX8 (ADAMTS13) R W 7 rs34024143 Benign
47611 Q76LX8 (ADAMTS13) I M 79 rs281875297 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47612 Q76LX8 (ADAMTS13) V M 88 rs281875302 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47613 Q76LX8 (ADAMTS13) H D 96 rs121908467 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47614 Q76LX8 (ADAMTS13) R C 102 rs121908469 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47615 Q76LX8 (ADAMTS13) S F 119 rs281875291 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47616 Q76LX8 (ADAMTS13) I T 178 rs281875289 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47617 Q76LX8 (ADAMTS13) R W 193 rs281875287 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47618 Q76LX8 (ADAMTS13) T I 196 rs121908470 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47619 Q76LX8 (ADAMTS13) S P 203 rs281875298 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47620 Q76LX8 (ADAMTS13) L Q 232 rs281875292 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47621 Q76LX8 (ADAMTS13) H Q 234 rs281875304 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47622 Q76LX8 (ADAMTS13) D H 235 rs281875337 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47623 Q76LX8 (ADAMTS13) A V 250 rs121908478 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47624 Q76LX8 (ADAMTS13) S C 263 rs281875293 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47625 Q76LX8 (ADAMTS13) R P 268 rs121908477 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47626 Q76LX8 (ADAMTS13) Y C 304 rs281875285 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47627 Q76LX8 (ADAMTS13) C Y 311 rs281875336 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47628 Q76LX8 (ADAMTS13) T R 339 rs149517360 Benign
47629 Q76LX8 (ADAMTS13) C S 347 rs281875294 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47630 Q76LX8 (ADAMTS13) R C 349 rs281875288 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47631 Q76LX8 (ADAMTS13) P L 353 rs281875338 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47632 Q76LX8 (ADAMTS13) W C 390 rs281875306 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47633 Q76LX8 (ADAMTS13) R H 398 rs121908471 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47634 Q76LX8 (ADAMTS13) Q E 448 rs2301612 Benign
47635 Q76LX8 (ADAMTS13) Q H 456 rs36220239 Benign
47636 Q76LX8 (ADAMTS13) P L 457 rs36220240 Benign
47637 Q76LX8 (ADAMTS13) P S 475 rs11575933 Benign
47638 Q76LX8 (ADAMTS13) R Q 507 rs281875296 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47639 Q76LX8 (ADAMTS13) C Y 508 rs281875305 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47640 Q76LX8 (ADAMTS13) G D 525 rs281875286 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47641 Q76LX8 (ADAMTS13) R G 528 rs121908473 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47642 Q76LX8 (ADAMTS13) A V 596 rs281875299 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47643 Q76LX8 (ADAMTS13) A P 606 rs281875290 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47644 Q76LX8 (ADAMTS13) P A 618 rs28647808 Benign
47645 Q76LX8 (ADAMTS13) R H 625 rs36090624 Benign
47646 Q76LX8 (ADAMTS13) Y C 658 rs281875335 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47647 Q76LX8 (ADAMTS13) P L 671 rs281875295 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47648 Q76LX8 (ADAMTS13) I F 673 rs281875307 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47649 Q76LX8 (ADAMTS13) R C 692 rs121908475 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47650 Q76LX8 (ADAMTS13) A V 732 rs41314453 Benign
47651 Q76LX8 (ADAMTS13) E K 740 rs36221451 Benign
47652 Q76LX8 (ADAMTS13) C R 758 rs281875300 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47653 Q76LX8 (ADAMTS13) A V 900 rs685523 Benign
47654 Q76LX8 (ADAMTS13) S L 903 rs78977446 Benign
47655 Q76LX8 (ADAMTS13) C S 908 rs281875301 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47656 Q76LX8 (ADAMTS13) C Y 908 rs281875301 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47657 Q76LX8 (ADAMTS13) C G 951 rs121908468 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47658 Q76LX8 (ADAMTS13) G R 982 rs36222275 Benign
47659 Q76LX8 (ADAMTS13) C G 1024 rs121908472 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47660 Q76LX8 (ADAMTS13) A T 1033 rs28503257 Benign
47661 Q76LX8 (ADAMTS13) R W 1060 rs142572218 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47662 Q76LX8 (ADAMTS13) R W 1095 rs782383410 Benign
47663 Q76LX8 (ADAMTS13) R C 1123 rs281875340 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47664 Q76LX8 (ADAMTS13) C Y 1213 rs121908474 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47665 Q76LX8 (ADAMTS13) R W 1219 rs281875339 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47666 Q76LX8 (ADAMTS13) T I 1226 rs36222894 Benign
47667 Q76LX8 (ADAMTS13) G V 1239 rs281875303 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47668 Q76LX8 (ADAMTS13) S L 1314 rs142060916 Benign
47669 Q76LX8 (ADAMTS13) R W 1336 rs281875308 Disease: Thrombotic thrombocytop enic purpura congenital (TTP) [MIM:274150]
47670 Q76MJ5 (ERN2) V I 69 rs9932495 Benign
47671 Q76MJ5 (ERN2) R C 118 rs56117885 Benign
47672 Q76MJ5 (ERN2) R C 184 rs34683474 Benign
47673 Q76MJ5 (ERN2) R Q 271 rs55772851 Benign
47674 Q76MJ5 (ERN2) A T 318 rs56191901 Benign
47675 Q76MJ5 (ERN2) L F 410 rs55687638 Benign
47676 Q76MJ5 (ERN2) S T 487 rs26764 Benign
47677 Q76MJ5 (ERN2) L F 504 rs56001432 Benign
47678 Q76MJ5 (ERN2) R Q 537 rs56176960 Benign
47679 Q76MJ5 (ERN2) H Y 858 rs56137182 Benign
47680 Q76N32 (CEP68) R G 27 rs12611491 Benign
47681 Q76N32 (CEP68) G S 74 rs7572857 Benign
47682 Q76N32 (CEP68) L P 397 rs35501092 Benign
47683 Q76N32 (CEP68) R C 462 rs35694840 Benign
47684 Q76N32 (CEP68) E Q 473 rs35089924 Benign
47685 Q76NI1 (KNDC1) E G 436 rs3810964 Benign
47686 Q76NI1 (KNDC1) G S 581 rs35152544 Benign
47687 Q76NI1 (KNDC1) L P 717 rs2998139 Benign
47688 Q76NI1 (KNDC1) R W 1038 rs35604376 Benign
47689 Q76NI1 (KNDC1) A T 1332 rs11101642 Benign
47690 Q7KYR7 (BTN2A1) R C 124 rs3734539 Benign
47691 Q7KYR7 (BTN2A1) W C 178 rs13195402 Benign
47692 Q7KYR7 (BTN2A1) W L 178 rs13195401 Benign
47693 Q7KYR7 (BTN2A1) V M 207 rs13195509 Benign
47694 Q7KYR7 (BTN2A1) R Q 378 rs3734542 Benign
47695 Q7KYR7 (BTN2A1) G A 451 rs3734543 Benign
47696 Q7KZN9 (COX15) R W 217 rs28939711 Disease: Leigh syndrome (LS) [MIM:256000]
47697 Q7KZN9 (COX15) S P 344 rs397514662 Disease: Leigh syndrome (LS) [MIM:256000]
47698 Q7L014 (DDX46) E Q 207 rs10447293 Benign
47699 Q7L0Q8 (RHOU) T A 121 rs3820264 Benign
47700 Q7L0X0 (TRIL) N S 240 rs740250 Benign
47701 Q7L0X0 (TRIL) A T 347 rs3735561 Benign
47702 Q7L0X0 (TRIL) G D 369 rs3735562 Benign
47703 Q7L0X0 (TRIL) G R 666 - Benign
47704 Q7L0X2 (ERICH6) G V 9 rs16862795 Benign
47705 Q7L0X2 (ERICH6) G R 433 rs11919896 Benign
47706 Q7L0X2 (ERICH6) R H 604 rs34137455 Benign
47707 Q7L0Y3 (TRMT10C) P R 56 rs3762735 Benign
47708 Q7L0Y3 (TRMT10C) K N 164 rs16844031 Benign
47709 Q7L0Y3 (TRMT10C) R L 181 rs199730889 Disease: Combined oxidative phosphorylat ion deficiency 30 (COXPD30) [MIM:616974]
47710 Q7L0Y3 (TRMT10C) T A 272 rs875989831 Disease: Combined oxidative phosphorylat ion deficiency 30 (COXPD30) [MIM:616974]
47711 Q7L190 (DPPA4) I V 55 rs3762648 Benign
47712 Q7L190 (DPPA4) S F 226 rs3905734 Benign
47713 Q7L1S5 (CHST9) S N 122 rs17694469 Benign
47714 Q7L1S5 (CHST9) N S 378 rs758130927 Benign
47715 Q7L1T6 (CYB5R4) R H 140 rs61762820 Benign
47716 Q7L1T6 (CYB5R4) Q R 187 rs143478181 Benign
47717 Q7L1T6 (CYB5R4) H R 223 rs141290525 Benign
47718 Q7L1T6 (CYB5R4) P A 267 rs61382555 Benign
47719 Q7L1T6 (CYB5R4) S P 282 rs10080628 Benign
47720 Q7L1T6 (CYB5R4) P S 316 rs10080628 Benign
47721 Q7L1W4 (LRRC8D) S Y 371 rs11552246 Benign
47722 Q7L2E3 (DHX30) R H 493 rs1057519436 Disease: Neurodevelop mental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
47723 Q7L2E3 (DHX30) H R 562 rs1060499733 Disease: Neurodevelop mental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
47724 Q7L2E3 (DHX30) G D 781 rs1553706775 Disease: Neurodevelop mental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
47725 Q7L2E3 (DHX30) R W 782 rs753242774 Disease: Neurodevelop mental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
47726 Q7L2E3 (DHX30) R C 785 rs1085307451 Disease: Neurodevelop mental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
47727 Q7L2E3 (DHX30) R H 785 rs1553706799 Disease: Neurodevelop mental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]
47728 Q7L2H7 (EIF3M) G R 37 rs11557143 Benign
47729 Q7L2H7 (EIF3M) Q R 346 rs1802363 Benign
47730 Q7L2K0 (TEDC2) R K 346 rs34948268 Benign
47731 Q7L2R6 (ZNF765) S G 389 rs10425136 Benign
47732 Q7L2Z9 (CENPQ) G R 63 rs4267943 Benign
47733 Q7L2Z9 (CENPQ) D G 266 rs2501968 Benign
47734 Q7L3B6 (CDC37L1) S F 291 rs7036014 Benign
47735 Q7L3S4 (ZNF771) D N 207 rs17852362 Benign
47736 Q7L3T8 (PARS2) R S 28 rs11577368 Benign
47737 Q7L3T8 (PARS2) N S 235 rs2270004 Benign
47738 Q7L3V2 (RTL10) R H 116 rs17745302 Benign
47739 Q7L3V2 (RTL10) D Y 123 rs34027839 Benign
47740 Q7L4E1 (MIGA2) E K 78 rs6478859 Benign
47741 Q7L4E1 (MIGA2) V A 100 rs11544968 Benign
47742 Q7L4E1 (MIGA2) G S 212 rs17452596 Benign
47743 Q7L4I2 (RSRC2) H R 88 rs17886684 Benign
47744 Q7L513 (FCRLA) R Q 349 rs11746 Benign
47745 Q7L576 (CYFIP1) A P 532 rs34683919 Benign
47746 Q7L576 (CYFIP1) G D 820 rs17137190 Benign
47747 Q7L576 (CYFIP1) G S 820 rs7170637 Benign
47748 Q7L590 (MCM10) K R 134 rs17152897 Benign
47749 Q7L590 (MCM10) A P 195 rs34630110 Benign
47750 Q7L590 (MCM10) A V 418 rs35114749 Benign
47751 Q7L590 (MCM10) T S 541 rs7905784 Benign
47752 Q7L590 (MCM10) K R 669 rs2274110 Benign
47753 Q7L591 (DOK3) R P 12 rs3749728 Benign
47754 Q7L591 (DOK3) G R 22 rs41275297 Benign
47755 Q7L592 (NDUFAF7) P A 39 rs2714473 Benign
47756 Q7L592 (NDUFAF7) D E 266 - Disease: -
47757 Q7L5A8 (FA2H) D Y 35 rs121918217 Disease: Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]
47758 Q7L5A8 (FA2H) P A 97 rs35874850 Benign
47759 Q7L5A8 (FA2H) R C 154 rs387907040 Disease: Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]
47760 Q7L5A8 (FA2H) R C 235 rs387907039 Disease: Spastic paraplegia 35, autosomal recessive (SPG35) [MIM:612319]
47761 Q7L5N7 (LPCAT2) M I 163 rs837550 Benign
47762 Q7L5Y1 (ENOSF1) D E 31 rs34724061 Benign
47763 Q7L5Y1 (ENOSF1) M T 145 rs2612086 Benign
47764 Q7L5Y1 (ENOSF1) Y S 428 rs2847620 Benign
47765 Q7L5Y9 (MAEA) R C 34 rs34082974 Benign
47766 Q7L622 (G2E3) R H 232 rs17096934 Benign
47767 Q7L775 (EPM2AIP1) V F 333 rs4647202 Benign
47768 Q7L775 (EPM2AIP1) A S 360 rs4647201 Benign
47769 Q7L7V1 (DHX32) E D 271 rs11244674 Benign
47770 Q7L7V1 (DHX32) D A 301 rs35772239 Benign
47771 Q7L7V1 (DHX32) V L 430 rs17153669 Benign
47772 Q7L7X3 (TAOK1) A T 855 rs34151057 Benign
47773 Q7L804 (RAB11FIP2) F V 152 rs34028100 Benign
47774 Q7L8L6 (FASTKD5) R C 256 rs3746700 Benign
47775 Q7L8L6 (FASTKD5) I T 288 rs2422857 Benign
47776 Q7L8L6 (FASTKD5) I V 377 rs3746699 Benign
47777 Q7L8W6 (DPH6) G E 41 rs34907758 Benign
47778 Q7L8W6 (DPH6) P R 236 rs10519996 Benign
47779 Q7L985 (LINGO2) R H 507 rs17506843 Benign
47780 Q7L9B9 (EEPD1) S N 343 rs196586 Benign
47781 Q7L9B9 (EEPD1) A S 358 rs3815682 Benign
47782 Q7L9B9 (EEPD1) P S 416 rs196594 Benign
47783 Q7LBC6 (KDM3B) A T 256 rs6865472 Benign
47784 Q7LBC6 (KDM3B) S N 1201 rs7706614 Benign
47785 Q7LBE3 (SLC26A9) Y N 70 rs75021701 Benign
47786 Q7LBE3 (SLC26A9) T N 127 rs77497889 Benign
47787 Q7LBE3 (SLC26A9) I T 384 rs112659452 Benign
47788 Q7LBE3 (SLC26A9) R W 575 rs201823199 Benign
47789 Q7LBE3 (SLC26A9) P L 606 rs74146719 Benign
47790 Q7LBE3 (SLC26A9) V L 622 rs34992672 Benign
47791 Q7LBE3 (SLC26A9) V M 744 rs3811428 Benign
47792 Q7LBE3 (SLC26A9) H R 748 rs16856462 Benign
47793 Q7LDG7 (RASGRP2) G W 248 rs587777529 Disease: Bleeding disorder, platelet- type 18 (BDPLT18) [MIM:615888]
47794 Q7LDG7 (RASGRP2) C Y 296 - Disease: Bleeding disorder, platelet- type 18 (BDPLT18) [MIM:615888]
47795 Q7LDG7 (RASGRP2) G D 305 - Disease: Bleeding disorder, platelet- type 18 (BDPLT18) [MIM:615888]
47796 Q7LDG7 (RASGRP2) S F 381 rs767965347 Disease: Bleeding disorder, platelet- type 18 (BDPLT18) [MIM:615888]
47797 Q7LDG7 (RASGRP2) G A 493 rs2301562 Benign
47798 Q7LG56 (RRM2B) W R 64 rs515726182 Disease: Mitochondria l DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
47799 Q7LG56 (RRM2B) R H 110 rs267607025 Disease: Mitochondria l DNA depletion syndrome 8B (MTDPS8B) [MIM:612075]
47800 Q7LG56 (RRM2B) R H 121 rs267607024 Disease: Mitochondria l DNA depletion syndrome 8B (MTDPS8B) [MIM:612075]
47801 Q7LG56 (RRM2B) E G 194 rs515726191 Disease: Mitochondria l DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
47802 Q7LG56 (RRM2B) E K 194 rs121918308 Disease: Mitochondria l DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
47803 Q7LG56 (RRM2B) I S 224 rs515726196 Disease: Mitochondria l DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
47804 Q7LG56 (RRM2B) C F 236 rs121918309 Disease: Mitochondria l DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
47805 Q7LG56 (RRM2B) M I 282 rs182614164 Disease: Mitochondria l DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
47806 Q7LG56 (RRM2B) L V 317 rs515726198 Disease: Mitochondria l DNA depletion syndrome 8A (MTDPS8A) [MIM:612075]
47807 Q7LGC8 (CHST3) R W 222 rs121908617 Disease: Spondyloepip hyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
47808 Q7LGC8 (CHST3) L P 259 rs121908616 Disease: Spondyloepip hyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
47809 Q7LGC8 (CHST3) R Q 304 rs28937593 Disease: Spondyloepip hyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
47810 Q7LGC8 (CHST3) L P 307 rs121908618 Disease: Spondyloepip hyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
47811 Q7LGC8 (CHST3) I M 348 rs3740128 Benign
47812 Q7LGC8 (CHST3) R Q 357 rs3740129 Benign
47813 Q7LGC8 (CHST3) E K 372 rs267606734 Disease: Spondyloepip hyseal dysplasia with congenital joint dislocations (SEDCJD) [MIM:143095]
47814 Q7RTM1 (OTOP1) I V 241 rs28394859 Benign
47815 Q7RTM1 (OTOP1) D E 309 rs2916414 Benign
47816 Q7RTM1 (OTOP1) V M 434 rs11736799 Benign
47817 Q7RTM1 (OTOP1) K T 493 rs34666677 Benign
47818 Q7RTM1 (OTOP1) Q H 516 rs35106142 Benign
47819 Q7RTN6 (STRADA) R W 13 rs35808156 Benign
47820 Q7RTN6 (STRADA) S I 60 rs56271007 Benign
47821 Q7RTN6 (STRADA) P S 64 rs55695051 Benign
47822 Q7RTP0 (NIPA1) T R 45 rs104894496 Disease: Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363]
47823 Q7RTP0 (NIPA1) G R 106 rs104894490 Disease: Spastic paraplegia 6, autosomal dominant (SPG6) [MIM:600363]
47824 Q7RTP6 (MICAL3) P A 11 rs11913706 Benign
47825 Q7RTP6 (MICAL3) R Q 745 rs2289719 Benign
47826 Q7RTP6 (MICAL3) M L 750 rs5992128 Benign
47827 Q7RTR2 (NLRC3) V M 567 rs8057436 Benign
47828 Q7RTR8 (TAS2R42) Y F 175 rs35969491 Benign
47829 Q7RTR8 (TAS2R42) F S 196 rs5020531 Benign
47830 Q7RTR8 (TAS2R42) G W 255 rs1669413 Benign
47831 Q7RTR8 (TAS2R42) Y C 265 rs1451772 Benign
47832 Q7RTR8 (TAS2R42) R Q 292 rs1669412 Benign
47833 Q7RTR8 (TAS2R42) A P 311 rs1650017 Benign
47834 Q7RTS3 (PTF1A) S P 263 rs7918487 Benign
47835 Q7RTS5 (OTOP3) R Q 64 rs7210616 Benign
47836 Q7RTS5 (OTOP3) R Q 146 rs9890664 Benign
47837 Q7RTS5 (OTOP3) S P 199 rs1542752 Benign
47838 Q7RTS5 (OTOP3) L V 477 rs35131040 Benign
47839 Q7RTS6 (OTOP2) G W 465 rs6501741 Benign
47840 Q7RTS7 (KRT74) N K 148 rs267607205 Disease: Woolly hair autosomal dominant (ADWH) [MIM:194300]
47841 Q7RTS7 (KRT74) N K 165 rs11170177 Benign
47842 Q7RTS7 (KRT74) L Q 178 rs11170176 Benign
47843 Q7RTS7 (KRT74) E D 271 rs670741 Benign
47844 Q7RTS7 (KRT74) F S 274 rs147962513 Disease: Ectodermal dysplasia 7, hair/nail type (ECTD7) [MIM:614929]
47845 Q7RTS7 (KRT74) R Q 392 rs57387512 Benign
47846 Q7RTS7 (KRT74) E K 424 rs57711382 Benign
47847 Q7RTS7 (KRT74) D N 482 rs267607477 Disease: Hypotrichosi s 3 (HYPT3) [MIM:613981]
47848 Q7RTS9 (DYM) E K 87 rs120074164 Disease: Smith-McCort dysplasia 1 (SMC1) [MIM:607326]
47849 Q7RTS9 (DYM) N Y 469 rs120074163 Disease: Dyggve- Melchior- Clausen syndrome (DMC) [MIM:223800]
47850 Q7RTS9 (DYM) C R 542 rs120074165 Disease: Smith-McCort dysplasia 1 (SMC1) [MIM:607326]
47851 Q7RTT3 (SSX9P) C R 72 rs4598385 Benign
47852 Q7RTT3 (SSX9P) S P 97 rs6609702 Benign
47853 Q7RTT5 (SSX7) L S 43 rs3122210 Benign
47854 Q7RTT6 (SSX6P) R C 90 rs5952474 Benign
47855 Q7RTT6 (SSX6P) K Q 138 rs17327911 Benign
47856 Q7RTT9 (SLC29A4) V E 79 rs17854505 Benign
47857 Q7RTT9 (SLC29A4) N K 124 rs17855675 Benign
47858 Q7RTT9 (SLC29A4) P T 429 rs17857336 Benign
47859 Q7RTU1 (TCF23) R Q 25 rs11126879 Benign
47860 Q7RTU1 (TCF23) T S 40 rs4502371 Benign
47861 Q7RTU4 (BHLHA9) N D 71 rs672601337 Disease: Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432]
47862 Q7RTU4 (BHLHA9) R P 73 rs672601338 Disease: Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432]
47863 Q7RTU4 (BHLHA9) R L 75 rs672601339 Disease: Syndactyly, mesoaxial synostotic, with phalangeal reduction (MSSD) [MIM:609432]
47864 Q7RTU9 (STRC) L F 1640 rs2920791 Benign
47865 Q7RTV2 (GSTA5) V I 55 rs2397118 Benign
47866 Q7RTV5 (PRXL2C) R K 83 rs9886834 Benign
47867 Q7RTX0 (TAS1R3) C R 757 rs307377 Benign
47868 Q7RTX1 (TAS1R1) K E 347 rs10864628 Benign
47869 Q7RTX1 (TAS1R1) A T 372 rs34160967 Benign
47870 Q7RTX1 (TAS1R1) R Q 507 rs35118458 Benign
47871 Q7RTX7 (CATSPER4) Q R 77 rs11247866 Benign
47872 Q7RTX7 (CATSPER4) L F 124 rs12138368 Benign
47873 Q7RTX7 (CATSPER4) I V 293 rs17257155 Benign
47874 Q7RTX7 (CATSPER4) D N 436 rs6657616 Benign
47875 Q7RTY1 (SLC16A9) A V 203 rs56370926 Benign
47876 Q7RTY1 (SLC16A9) T K 258 rs2242206 Benign
47877 Q7RTY1 (SLC16A9) D E 461 rs11006655 Benign
47878 Q7RTY5 (PRSS48) C Y 53 rs36097019 Benign
47879 Q7RTY5 (PRSS48) L S 118 rs17027505 Benign
47880 Q7RTY5 (PRSS48) R C 290 rs13126069 Benign
47881 Q7RTY7 (OVCH1) R C 133 rs10843438 Benign
47882 Q7RTY7 (OVCH1) W G 228 rs967181 Benign
47883 Q7RTY7 (OVCH1) K E 330 rs3847680 Benign
47884 Q7RTY7 (OVCH1) I T 444 rs7975356 Benign
47885 Q7RTY7 (OVCH1) L V 557 rs35183403 Benign
47886 Q7RTY7 (OVCH1) S F 672 rs11050243 Benign
47887 Q7RTY7 (OVCH1) G R 754 rs12305672 Benign
47888 Q7RTY7 (OVCH1) P A 881 rs1347570 Benign
47889 Q7RTY7 (OVCH1) P S 934 rs7967676 Benign
47890 Q7RTY9 (PRSS41) S G 286 rs746540699 Benign
47891 Q7RTZ1 (OVCH2) R Q 19 rs7927138 Benign
47892 Q7RTZ1 (OVCH2) T A 24 rs12289558 Benign
47893 Q7RTZ1 (OVCH2) P S 292 rs10839849 Benign
47894 Q7RTZ1 (OVCH2) G E 381 rs3925028 Benign
47895 Q7RTZ1 (OVCH2) N T 410 rs4528317 Benign
47896 Q7RTZ1 (OVCH2) N Y 410 rs4528317 Benign
47897 Q7RTZ1 (OVCH2) R G 413 rs3925027 Benign
47898 Q7RTZ1 (OVCH2) H Q 526 rs4519083 Benign
47899 Q7RTZ1 (OVCH2) T I 539 rs4633461 Benign
47900 Q7Z2D5 (PLPPR4) Q K 2 rs712896 Benign
47901 Q7Z2D5 (PLPPR4) A V 32 rs35285687 Benign
47902 Q7Z2E3 (APTX) K Q 211 - Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47903 Q7Z2E3 (APTX) A V 212 rs748165574 Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47904 Q7Z2E3 (APTX) R H 213 rs150886026 Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47905 Q7Z2E3 (APTX) H R 215 rs121908133 Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47906 Q7Z2E3 (APTX) P L 220 rs121908131 Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47907 Q7Z2E3 (APTX) L P 237 rs267606665 Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47908 Q7Z2E3 (APTX) V G 277 rs121908132 Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47909 Q7Z2E3 (APTX) D G 281 - Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47910 Q7Z2E3 (APTX) W R 293 rs773393618 Disease: Ataxia- oculomotor apraxia syndrome (AOA) [MIM:208920]
47911 Q7Z2G1 (H2BW1) R W 87 rs17332043 Benign
47912 Q7Z2G1 (H2BW1) R H 123 rs553509 Benign
47913 Q7Z2H8 (SLC36A1) F L 362 rs9687945 Benign
47914 Q7Z2K6 (ERMP1) S N 44 rs13284203 Benign
47915 Q7Z2K8 (GPRIN1) P T 121 rs17854765 Benign
47916 Q7Z2K8 (GPRIN1) M V 300 rs6556276 Benign
47917 Q7Z2K8 (GPRIN1) G A 337 rs10037225 Benign
47918 Q7Z2K8 (GPRIN1) S P 357 rs34285890 Benign
47919 Q7Z2W4 (ZC3HAV1) R K 485 rs2236426 Benign
47920 Q7Z2W4 (ZC3HAV1) H Q 565 rs2297241 Benign
47921 Q7Z2W4 (ZC3HAV1) Q E 701 rs2297236 Benign
47922 Q7Z2W4 (ZC3HAV1) T I 851 rs3735007 Benign
47923 Q7Z2W7 (TRPM8) R T 247 rs13004520 Benign
47924 Q7Z2W7 (TRPM8) Y C 251 rs17868387 Benign
47925 Q7Z2W7 (TRPM8) S N 419 rs7593557 Benign
47926 Q7Z2W7 (TRPM8) M T 462 rs28902173 Benign
47927 Q7Z2W7 (TRPM8) T I 732 rs17862932 Benign
47928 Q7Z2W7 (TRPM8) N S 821 rs28902201 Benign
47929 Q7Z2X7 (PAGE2) L V 5 rs1845444 Benign
47930 Q7Z2Y5 (NRK) Q H 355 rs55862725 Benign
47931 Q7Z2Y5 (NRK) V M 358 rs209373 Benign
47932 Q7Z2Y5 (NRK) P A 426 rs55635933 Benign
47933 Q7Z2Y5 (NRK) E G 579 rs56350428 Benign
47934 Q7Z2Y5 (NRK) E G 679 rs35115195 Benign
47935 Q7Z2Y5 (NRK) R H 727 rs33936206 Benign
47936 Q7Z2Y5 (NRK) D G 971 rs35334892 Benign
47937 Q7Z2Y5 (NRK) A E 993 rs16984889 Benign
47938 Q7Z2Y5 (NRK) P S 1106 rs35393519 Benign
47939 Q7Z2Y5 (NRK) A P 1121 rs35720774 Benign
47940 Q7Z2Y5 (NRK) H L 1276 rs35942881 Benign
47941 Q7Z2Y5 (NRK) G A 1471 rs34232354 Benign
47942 Q7Z2Y5 (NRK) M L 1472 rs35609510 Benign
47943 Q7Z2Z1 (TICRR) R C 287 rs10775247 Benign
47944 Q7Z2Z1 (TICRR) R W 402 rs11629584 Benign
47945 Q7Z2Z1 (TICRR) R C 628 rs3743372 Benign
47946 Q7Z2Z1 (TICRR) V A 747 rs12905387 Benign
47947 Q7Z2Z1 (TICRR) S C 923 rs16943377 Benign
47948 Q7Z2Z1 (TICRR) R C 1523 rs894157 Benign
47949 Q7Z2Z1 (TICRR) S T 1718 rs1866928 Benign
47950 Q7Z2Z1 (TICRR) R C 1885 rs3743372 Benign
47951 Q7Z2Z2 (EFL1) E D 478 rs2292189 Benign
47952 Q7Z2Z2 (EFL1) I V 617 rs1128431 Benign
47953 Q7Z2Z2 (EFL1) K R 711 rs2292071 Benign
47954 Q7Z304 (MAMDC2) S N 294 rs1998972 Benign
47955 Q7Z304 (MAMDC2) V A 646 rs35534839 Benign
47956 Q7Z333 (SETX) T I 3 rs28941475 Disease: Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
47957 Q7Z333 (SETX) M I 274 rs997473183 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47958 Q7Z333 (SETX) M V 274 rs753713810 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47959 Q7Z333 (SETX) W C 305 - Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47960 Q7Z333 (SETX) I K 331 - Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47961 Q7Z333 (SETX) R W 332 rs29001665 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47962 Q7Z333 (SETX) L S 389 rs29001584 Disease: Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
47963 Q7Z333 (SETX) P L 413 - Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47964 Q7Z333 (SETX) P L 496 - Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47965 Q7Z333 (SETX) N D 603 rs116205032 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47966 Q7Z333 (SETX) Q K 653 rs116333061 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47967 Q7Z333 (SETX) A G 660 rs882709 Benign
47968 Q7Z333 (SETX) K R 992 rs61742937 Benign
47969 Q7Z333 (SETX) P L 1061 rs12352982 Benign
47970 Q7Z333 (SETX) F C 1152 rs3739922 Benign
47971 Q7Z333 (SETX) D E 1192 rs1185193 Benign
47972 Q7Z333 (SETX) K N 1221 rs12344006 Benign
47973 Q7Z333 (SETX) G R 1252 rs1183768 Benign
47974 Q7Z333 (SETX) R C 1294 rs267607044 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47975 Q7Z333 (SETX) P L 1331 rs11243731 Benign
47976 Q7Z333 (SETX) I V 1386 rs543573 Benign
47977 Q7Z333 (SETX) C G 1554 rs112089123 Disease: Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
47978 Q7Z333 (SETX) F S 1756 rs762175796 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47979 Q7Z333 (SETX) T A 1855 rs2296871 Benign
47980 Q7Z333 (SETX) T P 1855 rs2296871 Benign
47981 Q7Z333 (SETX) L R 1976 rs121434379 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47982 Q7Z333 (SETX) K E 2029 rs746525639 Disease: Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
47983 Q7Z333 (SETX) R H 2136 rs121434378 Disease: Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
47984 Q7Z333 (SETX) P L 2213 rs28940290 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47985 Q7Z333 (SETX) M T 2229 rs1471824334 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47986 Q7Z333 (SETX) P R 2368 rs1420833435 Disease: Spinocerebel lar ataxia, autosomal recessive, with axonal neuropathy 2 (SCAN2) [MIM:606002]
47987 Q7Z333 (SETX) I T 2547 rs151117904 Disease: Amyotrophic lateral sclerosis 4 (ALS4) [MIM:602433]
47988 Q7Z333 (SETX) I V 2587 rs1056899 Benign
47989 Q7Z333 (SETX) S G 2612 rs3739927 Benign
47990 Q7Z340 (ZNF551) N S 218 rs10413864 Benign
47991 Q7Z340 (ZNF551) R W 550 rs12611105 Benign
47992 Q7Z353 (HDX) A T 193 rs35653454 Benign
47993 Q7Z353 (HDX) F S 397 rs35161124 Benign
47994 Q7Z392 (TRAPPC11) G R 980 rs397509417 Disease: Muscular dystrophy, limb-girdle, autosomal recessive 18 (LGMDR18) [MIM:615356]
47995 Q7Z398 (ZNF550) I T 359 rs1548476 Benign
47996 Q7Z3B0 (SMIM15) L F 23 rs4546328 Benign
47997 Q7Z3B3 (KANSL1) K T 104 rs17585974 Benign
47998 Q7Z3B3 (KANSL1) T I 221 rs17662853 Benign
47999 Q7Z3B3 (KANSL1) N D 225 rs35643216 Benign
48000 Q7Z3B3 (KANSL1) S P 718 rs34043286 Benign
48001 Q7Z3B3 (KANSL1) P L 1010 rs7220988 Benign
48002 Q7Z3B3 (KANSL1) I T 1085 rs34579536 Benign
48003 Q7Z3C6 (ATG9A) S G 592 rs2276635 Benign
48004 Q7Z3C6 (ATG9A) Q H 659 rs2276634 Benign
48005 Q7Z3D6 (DGLUCY) R C 10 rs10142502 Benign
48006 Q7Z3D6 (DGLUCY) S N 237 rs34302825 Benign
48007 Q7Z3D6 (DGLUCY) A T 372 rs12895348 Benign
48008 Q7Z3D6 (DGLUCY) D N 502 rs2295524 Benign
48009 Q7Z3D6 (DGLUCY) D N 507 rs34523602 Benign
48010 Q7Z3D6 (DGLUCY) G D 583 rs34748911 Benign
48011 Q7Z3E1 (TIPARP) R S 406 rs17854621 Benign
48012 Q7Z3E2 (CCDC186) T I 85 rs1061159 Benign
48013 Q7Z3E2 (CCDC186) R Q 179 rs12782946 Benign
48014 Q7Z3E2 (CCDC186) Q K 271 rs7095762 Benign
48015 Q7Z3E5 (ARMC9) L F 108 rs11558175 Benign
48016 Q7Z3E5 (ARMC9) I V 180 rs1626450 Benign
48017 Q7Z3E5 (ARMC9) I T 209 rs16827883 Benign
48018 Q7Z3E5 (ARMC9) R H 222 rs3752780 Benign
48019 Q7Z3E5 (ARMC9) D N 330 - Benign
48020 Q7Z3H0 (ANKRD33) Y F 140 rs697636 Benign
48021 Q7Z3H0 (ANKRD33) Q R 257 rs34494292 Benign
48022 Q7Z3H0 (ANKRD33) T N 313 rs12368048 Benign
48023 Q7Z3H4 (SAMD7) E D 220 rs10513680 Benign
48024 Q7Z3I7 (ZNF572) K T 317 rs10104558 Benign
48025 Q7Z3I7 (ZNF572) G E 380 rs10105106 Benign
48026 Q7Z3I7 (ZNF572) S C 448 rs10107774 Benign
48027 Q7Z3I7 (ZNF572) V I 500 rs7825375 Benign
48028 Q7Z3J2 (VPS35L) Y C 32 rs17854969 Benign
48029 Q7Z3J2 (VPS35L) N I 186 rs7206637 Benign
48030 Q7Z3J2 (VPS35L) A V 506 rs17854970 Benign
48031 Q7Z3K3 (POGZ) E K 1040 - Disease: -
48032 Q7Z3K3 (POGZ) E D 1365 rs35198305 Benign
48033 Q7Z3K6 (MIER3) D G 126 rs17854108 Benign
48034 Q7Z3K6 (MIER3) N K 414 rs13177917 Benign
48035 Q7Z3K6 (MIER3) N D 432 rs13181823 Benign
48036 Q7Z3K6 (MIER3) N S 530 rs36017815 Benign
48037 Q7Z3S7 (CACNA2D4) I V 327 rs10735005 Benign
48038 Q7Z3S7 (CACNA2D4) R H 863 rs36077411 Benign
48039 Q7Z3S7 (CACNA2D4) T M 869 rs35331095 Benign
48040 Q7Z3S9 (NOTCH2NLA) S P 67 rs10910779 Benign
48041 Q7Z3S9 (NOTCH2NLA) T I 158 rs8002 Benign
48042 Q7Z3S9 (NOTCH2NLA) T S 196 rs4649852 Benign
48043 Q7Z3S9 (NOTCH2NLA) E Q 226 rs1053710 Benign
48044 Q7Z3T1 (OR2W3) R W 142 rs189993261 Benign
48045 Q7Z3T1 (OR2W3) C S 169 rs12083024 Benign
48046 Q7Z3T1 (OR2W3) R C 179 rs10888267 Benign
48047 Q7Z3T1 (OR2W3) V I 190 rs12135078 Benign
48048 Q7Z3T1 (OR2W3) E D 196 rs12139390 Benign
48049 Q7Z3T1 (OR2W3) M K 272 rs11204545 Benign
48050 Q7Z3T1 (OR2W3) M T 275 rs11204546 Benign
48051 Q7Z3T8 (ZFYVE16) A E 35 rs6893297 Benign
48052 Q7Z3T8 (ZFYVE16) I T 192 rs2544600 Benign
48053 Q7Z3T8 (ZFYVE16) A V 380 rs752702732 Benign
48054 Q7Z3T8 (ZFYVE16) I T 598 rs259028 Benign
48055 Q7Z3T8 (ZFYVE16) S G 1055 rs249038 Benign
48056 Q7Z3T8 (ZFYVE16) T N 1519 rs16877836 Benign
48057 Q7Z3U7 (MON2) A T 548 rs10219555 Benign
48058 Q7Z3V4 (UBE3B) R Q 346 rs7298565 Benign
48059 Q7Z3V4 (UBE3B) Q P 727 rs398123023 Disease: Kaufman oculocerebro facial syndrome (KOS) [MIM:244450]
48060 Q7Z3V5 (ZNF571) K M 170 rs16973893 Benign
48061 Q7Z3V5 (ZNF571) Q H 189 rs8111790 Benign
48062 Q7Z3V5 (ZNF571) E D 252 rs28512414 Benign
48063 Q7Z3V5 (ZNF571) L H 573 rs4802029 Benign
48064 Q7Z3V5 (ZNF571) K E 593 rs16973890 Benign
48065 Q7Z3Y7 (KRT28) G D 52 rs7209228 Benign
48066 Q7Z3Y7 (KRT28) A V 62 rs4624233 Benign
48067 Q7Z3Y7 (KRT28) A T 286 rs17558995 Benign
48068 Q7Z3Y8 (KRT27) S T 52 rs2469826 Benign
48069 Q7Z3Y8 (KRT27) E K 144 rs12453124 Benign
48070 Q7Z3Y8 (KRT27) G S 193 rs17558560 Benign
48071 Q7Z3Y8 (KRT27) A T 284 rs17558532 Benign
48072 Q7Z3Y8 (KRT27) I T 305 rs981684 Benign
48073 Q7Z3Y9 (KRT26) W R 118 rs9898164 Benign
48074 Q7Z3Z0 (KRT25) S L 54 rs12951399 Benign
48075 Q7Z3Z0 (KRT25) V L 238 rs879253749 Disease: Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760]
48076 Q7Z3Z0 (KRT25) L P 317 rs766783183 Disease: Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760]
48077 Q7Z3Z0 (KRT25) L R 376 - Disease: Woolly hair autosomal recessive 3 (ARWH3) [MIM:616760]
48078 Q7Z3Z2 (RD3) W R 6 rs35649846 Benign
48079 Q7Z3Z2 (RD3) E D 23 rs34422496 Benign
48080 Q7Z3Z2 (RD3) G R 35 rs530024772 Benign
48081 Q7Z3Z2 (RD3) R C 47 rs34049451 Benign
48082 Q7Z3Z2 (RD3) G V 57 rs767481165 Benign
48083 Q7Z3Z2 (RD3) R W 68 rs144697496 Benign
48084 Q7Z3Z2 (RD3) K M 130 rs766015590 Benign
48085 Q7Z3Z2 (RD3) R K 167 rs74782684 Benign
48086 Q7Z3Z2 (RD3) D V 195 rs143207434 Benign
48087 Q7Z3Z3 (PIWIL3) P L 186 rs61083377 Benign
48088 Q7Z3Z3 (PIWIL3) P S 375 rs1475853 Benign
48089 Q7Z3Z3 (PIWIL3) C R 412 rs1892722 Benign
48090 Q7Z3Z3 (PIWIL3) V M 418 rs1892723 Benign
48091 Q7Z3Z3 (PIWIL3) V I 471 rs11703684 Benign
48092 Q7Z3Z3 (PIWIL3) R C 589 rs738826 Benign
48093 Q7Z3Z4 (PIWIL4) Q R 78 rs12276921 Benign
48094 Q7Z3Z4 (PIWIL4) K R 167 rs12272255 Benign
48095 Q7Z3Z4 (PIWIL4) Q L 327 rs11020845 Benign
48096 Q7Z3Z4 (PIWIL4) A P 370 rs57607909 Benign
48097 Q7Z401 (DENND4A) L P 284 rs17854146 Benign
48098 Q7Z402 (TMC7) R W 59 rs17854512 Benign
48099 Q7Z402 (TMC7) G E 254 rs4072393 Benign
48100 Q7Z402 (TMC7) T S 355 rs55796412 Benign
48101 Q7Z402 (TMC7) T I 635 rs11864159 Benign
48102 Q7Z403 (TMC6) W R 125 rs2748427 Benign
48103 Q7Z403 (TMC6) L F 153 rs12449858 Benign
48104 Q7Z403 (TMC6) G D 191 rs34712518 Benign
48105 Q7Z404 (TMC4) G E 17 rs641738 Benign
48106 Q7Z404 (TMC4) Q E 689 rs36657 Benign
48107 Q7Z406 (MYH14) S L 120 rs119103281 Disease: Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]
48108 Q7Z406 (MYH14) I V 266 rs200424400 Benign
48109 Q7Z406 (MYH14) P A 334 rs34498817 Benign
48110 Q7Z406 (MYH14) G C 376 rs119103280 Disease: Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]
48111 Q7Z406 (MYH14) R S 726 rs28940307 Disease: Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]
48112 Q7Z406 (MYH14) R L 933 rs113993956 Disease: Peripheral neuropathy, myopathy, hoarseness, and hearing loss (PNMHH) [MIM:614369]
48113 Q7Z406 (MYH14) L F 976 rs28940306 Disease: Deafness, autosomal dominant, 4A (DFNA4A) [MIM:600652]
48114 Q7Z406 (MYH14) A V 1154 rs910420638 Benign
48115 Q7Z406 (MYH14) A E 1209 rs11669191 Benign
48116 Q7Z406 (MYH14) V I 1540 rs680446 Benign
48117 Q7Z406 (MYH14) N S 1559 rs769482601 Benign
48118 Q7Z407 (CSMD3) I M 219 rs2219898 Benign
48119 Q7Z407 (CSMD3) V L 3000 rs2193430 Benign
48120 Q7Z407 (CSMD3) N H 3621 rs1592624 Benign
48121 Q7Z408 (CSMD2) L P 167 rs16836099 Benign
48122 Q7Z408 (CSMD2) H R 538 rs474474 Benign
48123 Q7Z408 (CSMD2) R K 2096 rs1874045 Benign
48124 Q7Z408 (CSMD2) A V 2117 rs11588581 Benign
48125 Q7Z408 (CSMD2) M V 2554 rs2641962 Benign
48126 Q7Z408 (CSMD2) L R 2661 rs3820206 Benign
48127 Q7Z408 (CSMD2) L V 2661 rs34850622 Benign
48128 Q7Z408 (CSMD2) S F 3406 rs1617468 Benign
48129 Q7Z410 (TMPRSS9) T A 4 rs8100709 Benign
48130 Q7Z410 (TMPRSS9) S T 30 rs891174 Benign
48131 Q7Z410 (TMPRSS9) R W 73 rs17685098 Benign
48132 Q7Z410 (TMPRSS9) A T 456 rs10153474 Benign
48133 Q7Z410 (TMPRSS9) S T 659 rs60568869 Benign
48134 Q7Z410 (TMPRSS9) S N 793 rs735911 Benign
48135 Q7Z410 (TMPRSS9) E K 938 rs7247162 Benign
48136 Q7Z412 (PEX26) L P 45 rs61752132 Disease: Peroxisome biogenesis disorder 7B (PBD7B) [MIM:614873]
48137 Q7Z412 (PEX26) G R 89 rs28940308 Disease: Peroxisome biogenesis disorder 7A (PBD7A) [MIM:614872]
48138 Q7Z412 (PEX26) R W 98 rs62641228 Disease: Peroxisome biogenesis disorder complementat ion group 8 (PBD-CG8) [MIM:614872]
48139 Q7Z412 (PEX26) L V 153 rs12484657 Benign
48140 Q7Z418 (KCNK18) A V 34 - Benign
48141 Q7Z418 (KCNK18) F Y 58 rs3909165 Benign
48142 Q7Z418 (KCNK18) A G 198 rs363359 Benign
48143 Q7Z418 (KCNK18) S P 231 rs363315 Benign
48144 Q7Z418 (KCNK18) A V 233 rs363360 Benign
48145 Q7Z418 (KCNK18) E K 255 rs3026042 Benign
48146 Q7Z418 (KCNK18) V I 346 rs12247136 Benign
48147 Q7Z429 (GRINA) S N 107 rs17854152 Benign
48148 Q7Z434 (MAVS) C F 79 rs11905552 Benign
48149 Q7Z434 (MAVS) C S 79 rs11908032 Benign
48150 Q7Z434 (MAVS) Q E 93 rs17857295 Benign
48151 Q7Z434 (MAVS) Q K 198 rs7262903 Benign
48152 Q7Z434 (MAVS) S F 409 rs7269320 Benign
48153 Q7Z442 (PKD1L2) V A 20 rs9924530 Benign
48154 Q7Z442 (PKD1L2) W R 73 rs9924371 Benign
48155 Q7Z442 (PKD1L2) K N 77 rs9934272 Benign
48156 Q7Z442 (PKD1L2) Q L 120 rs7191351 Benign
48157 Q7Z442 (PKD1L2) G D 129 rs7185774 Benign
48158 Q7Z442 (PKD1L2) V I 156 rs35528333 Benign
48159 Q7Z442 (PKD1L2) C S 162 rs35970134 Benign
48160 Q7Z442 (PKD1L2) V M 169 rs36099350 Benign
48161 Q7Z442 (PKD1L2) L S 173 rs8060294 Benign
48162 Q7Z442 (PKD1L2) V I 183 rs12933806 Benign
48163 Q7Z442 (PKD1L2) G R 205 rs34719852 Benign
48164 Q7Z442 (PKD1L2) E G 221 rs6564838 Benign
48165 Q7Z442 (PKD1L2) R W 252 rs6420424 Benign
48166 Q7Z442 (PKD1L2) P A 301 rs11150370 Benign
48167 Q7Z442 (PKD1L2) N S 407 rs9937169 Benign
48168 Q7Z442 (PKD1L2) K Q 416 rs7194871 Benign
48169 Q7Z442 (PKD1L2) L V 462 rs9934856 Benign
48170 Q7Z442 (PKD1L2) P L 512 rs7205673 Benign
48171 Q7Z442 (PKD1L2) R H 636 rs13339342 Benign
48172 Q7Z442 (PKD1L2) L P 711 rs4889261 Benign
48173 Q7Z442 (PKD1L2) G C 785 rs9935113 Benign
48174 Q7Z442 (PKD1L2) R H 849 rs1869349 Benign
48175 Q7Z442 (PKD1L2) A V 863 rs12596941 Benign
48176 Q7Z442 (PKD1L2) L M 919 rs745211 Benign
48177 Q7Z442 (PKD1L2) R C 998 rs34504526 Benign
48178 Q7Z442 (PKD1L2) Q H 999 rs35292101 Benign
48179 Q7Z442 (PKD1L2) L P 1036 rs12597040 Benign
48180 Q7Z442 (PKD1L2) M V 1042 rs12931227 Benign
48181 Q7Z442 (PKD1L2) T A 1048 rs12931217 Benign
48182 Q7Z442 (PKD1L2) G V 1081 rs16954794 Benign
48183 Q7Z442 (PKD1L2) G W 1251 rs734824 Benign
48184 Q7Z442 (PKD1L2) S P 1326 rs1453324 Benign
48185 Q7Z442 (PKD1L2) N D 1330 rs1453325 Benign
48186 Q7Z442 (PKD1L2) I V 1331 rs9938333 Benign
48187 Q7Z442 (PKD1L2) A D 1335 rs1453326 Benign
48188 Q7Z442 (PKD1L2) T M 1406 rs8050904 Benign
48189 Q7Z442 (PKD1L2) A V 1527 rs16954775 Benign
48190 Q7Z442 (PKD1L2) Q R 1616 rs9921827 Benign
48191 Q7Z442 (PKD1L2) M V 1645 rs9921748 Benign
48192 Q7Z442 (PKD1L2) S Y 1665 rs7192948 Benign
48193 Q7Z442 (PKD1L2) Q H 1701 rs7194136 Benign
48194 Q7Z442 (PKD1L2) A V 1739 rs35941327 Benign
48195 Q7Z442 (PKD1L2) G R 1848 rs4889244 Benign
48196 Q7Z442 (PKD1L2) M V 1867 rs12918619 Benign
48197 Q7Z442 (PKD1L2) Q R 2036 rs16954722 Benign
48198 Q7Z442 (PKD1L2) P L 2046 rs7206183 Benign
48199 Q7Z442 (PKD1L2) A T 2055 rs16954717 Benign
48200 Q7Z442 (PKD1L2) L I 2119 rs8050204 Benign
48201 Q7Z442 (PKD1L2) S F 2139 rs4889241 Benign
48202 Q7Z442 (PKD1L2) S R 2209 rs4889238 Benign
48203 Q7Z442 (PKD1L2) M I 2315 rs8054182 Benign
48204 Q7Z443 (PKD1L3) I F 120 rs16973585 Benign
48205 Q7Z443 (PKD1L3) S P 211 rs4788591 Benign
48206 Q7Z443 (PKD1L3) K E 274 rs12708923 Benign
48207 Q7Z443 (PKD1L3) T S 429 rs7185272 Benign
48208 Q7Z443 (PKD1L3) A D 471 rs16973537 Benign
48209 Q7Z443 (PKD1L3) H Q 571 rs1559401 Benign
48210 Q7Z443 (PKD1L3) V M 593 rs9925415 Benign
48211 Q7Z443 (PKD1L3) V I 903 rs9921412 Benign
48212 Q7Z443 (PKD1L3) S R 1176 rs1035543 Benign
48213 Q7Z443 (PKD1L3) Y C 1474 rs13335617 Benign
48214 Q7Z449 (CYP2U1) C R 262 rs397514515 Disease: Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]
48215 Q7Z449 (CYP2U1) D V 316 rs397514513 Disease: Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]
48216 Q7Z449 (CYP2U1) E G 380 rs397514514 Disease: Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]
48217 Q7Z449 (CYP2U1) R W 488 rs141431913 Disease: Spastic paraplegia 56, autosomal recessive (SPG56) [MIM:615030]
48218 Q7Z460 (CLASP1) I T 233 rs17761055 Benign
48219 Q7Z465 (BNIPL) S N 65 rs12068365 Benign
48220 Q7Z465 (BNIPL) S N 226 rs12068365 Benign
48221 Q7Z478 (DHX29) D A 309 rs35874395 Benign
48222 Q7Z478 (DHX29) P H 630 rs17854904 Benign
48223 Q7Z494 (NPHP3) S T 360 rs119456960 Disease: Nephronophth isis 3 (NPHP3) [MIM:604387]
48224 Q7Z494 (NPHP3) N S 386 rs142021049 Disease: Nephronophth isis 3 (NPHP3) [MIM:604387]
48225 Q7Z494 (NPHP3) R H 397 rs755094682 Disease: Nephronophth isis 3 (NPHP3) [MIM:604387]
48226 Q7Z494 (NPHP3) R Q 973 rs119456963 Disease: Renal- hepatic- pancreatic dysplasia 1 (RHPD1) [MIM:208540]
48227 Q7Z494 (NPHP3) L P 1141 rs1057521090 Disease: Nephronophth isis 3 (NPHP3) [MIM:604387]
48228 Q7Z494 (NPHP3) A V 1221 rs202048210 Disease: Nephronophth isis 3 (NPHP3) [MIM:604387]
48229 Q7Z494 (NPHP3) S R 1252 rs143451766 Disease: Nephronophth isis 3 (NPHP3) [MIM:604387]
48230 Q7Z494 (NPHP3) R C 1305 rs35485382 Benign
48231 Q7Z494 (NPHP3) S T 1314 rs75316802 Disease: Nephronophth isis 3 (NPHP3) [MIM:604387]
48232 Q7Z4F1 (LRP10) R W 48 rs2273837 Benign
48233 Q7Z4F1 (LRP10) M V 139 rs28534929 Benign
48234 Q7Z4G1 (COMMD6) H N 52 rs1063485 Benign
48235 Q7Z4G4 (TRMT11) L Q 230 rs17854915 Benign
48236 Q7Z4H3 (HDDC2) R C 64 rs12213371 Benign
48237 Q7Z4H7 (HAUS6) S T 552 rs41269003 Benign
48238 Q7Z4H7 (HAUS6) H Q 674 rs10511670 Benign
48239 Q7Z4H7 (HAUS6) S I 761 rs4977493 Benign
48240 Q7Z4H8 (POGLUT3) R L 319 rs17853654 Benign
48241 Q7Z4H9 (FAM220A) G R 71 rs3750041 Benign
48242 Q7Z4H9 (FAM220A) R Q 127 rs3750040 Benign
48243 Q7Z4H9 (FAM220A) V L 161 rs3750039 Benign
48244 Q7Z4H9 (FAM220A) V M 198 rs6952125 Benign
48245 Q7Z4H9 (FAM220A) G S 237 rs2241445 Benign
48246 Q7Z4J2 (GLT6D1) H R 195 rs35762223 Benign
48247 Q7Z4J2 (GLT6D1) P S 219 rs17040344 Benign
48248 Q7Z4L5 (TTC21B) K R 66 - Benign
48249 Q7Z4L5 (TTC21B) W R 150 - Disease: Nephronophth isis 12 (NPHP12) [MIM:613820]
48250 Q7Z4L5 (TTC21B) V M 201 rs1432273 Benign
48251 Q7Z4L5 (TTC21B) P L 209 rs140511594 Disease: Nephronophth isis 12 (NPHP12) [MIM:613820]
48252 Q7Z4L5 (TTC21B) T S 231 rs149925563 Disease: Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]
48253 Q7Z4L5 (TTC21B) D N 242 rs74447004 Benign
48254 Q7Z4L5 (TTC21B) Y C 255 rs377061787 Benign
48255 Q7Z4L5 (TTC21B) T A 276 rs7592429 Benign
48256 Q7Z4L5 (TTC21B) R G 411 rs185089786 Benign
48257 Q7Z4L5 (TTC21B) Q R 412 rs199873923 Benign
48258 Q7Z4L5 (TTC21B) D E 424 rs533077805 Benign
48259 Q7Z4L5 (TTC21B) P S 463 rs16851307 Benign
48260 Q7Z4L5 (TTC21B) L F 473 rs2163649 Benign
48261 Q7Z4L5 (TTC21B) S N 591 - Disease: Joubert syndrome 11 (JBTS11) [MIM:613820]
48262 Q7Z4L5 (TTC21B) R C 616 rs139441507 Benign
48263 Q7Z4L5 (TTC21B) I V 624 rs77106136 Benign
48264 Q7Z4L5 (TTC21B) H R 645 rs200291881 Benign
48265 Q7Z4L5 (TTC21B) S T 724 rs759317777 Benign
48266 Q7Z4L5 (TTC21B) D Y 755 - Disease: Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]
48267 Q7Z4L5 (TTC21B) L P 795 rs387907060 Disease: Short-rib thoracic dysplasia 4 with or without polydactyly (SRTD4) [MIM:613819]
48268 Q7Z4L5 (TTC21B) K R 846 rs7595010 Benign
48269 Q7Z4L5 (TTC21B) R H 867 rs76726265 Benign
48270 Q7Z4L5 (TTC21B) R C 867 rs746700857 Disease: Joubert syndrome 11 (JBTS11) [MIM:613820]
48271 Q7Z4L5 (TTC21B) R Q 939 rs751382210 Benign
48272 Q7Z4L5 (TTC21B) R W 939 rs151227843 Benign
48273 Q7Z4L5 (TTC21B) M V 1011 rs761842893 Benign
48274 Q7Z4L5 (TTC21B) M T 1011 rs777427926 Disease: Joubert syndrome 11 (JBTS11) [MIM:613820]
48275 Q7Z4L5 (TTC21B) Y C 1035 rs757541819 Benign
48276 Q7Z4L5 (TTC21B) T R 1103 rs1482808126 Benign
48277 Q7Z4L5 (TTC21B) Y C 1167 rs1040877016 Disease: Nephronophth isis 12 (NPHP12) [MIM:613820]
48278 Q7Z4L5 (TTC21B) M V 1186 rs376308209 Disease: Joubert syndrome 11 (JBTS11) [MIM:613820]
48279 Q7Z4L5 (TTC21B) I S 1208 rs189519760 Benign
48280 Q7Z4L5 (TTC21B) D H 1284 rs139537546 Benign
48281 Q7Z4L5 (TTC21B) R G 1311 - Benign
48282 Q7Z4M0 (REC114) V M 148 rs12102004 Benign
48283 Q7Z4N2 (TRPM1) R W 6 - Benign
48284 Q7Z4N2 (TRPM1) S N 32 rs2241493 Benign
48285 Q7Z4N2 (TRPM1) Y C 56 - Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48286 Q7Z4N2 (TRPM1) Y C 72 rs200514769 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48287 Q7Z4N2 (TRPM1) R C 74 rs774365264 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48288 Q7Z4N2 (TRPM1) L P 99 rs191205969 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48289 Q7Z4N2 (TRPM1) L R 364 rs372608320 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48290 Q7Z4N2 (TRPM1) P T 399 rs141540242 Benign
48291 Q7Z4N2 (TRPM1) R P 473 - Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48292 Q7Z4N2 (TRPM1) G R 534 rs748043795 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48293 Q7Z4N2 (TRPM1) M K 541 rs1261040173 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48294 Q7Z4N2 (TRPM1) V M 605 rs17815774 Benign
48295 Q7Z4N2 (TRPM1) P H 611 rs267607139 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48296 Q7Z4N2 (TRPM1) R Q 721 rs781460164 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48297 Q7Z4N2 (TRPM1) E G 883 rs574652148 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48298 Q7Z4N2 (TRPM1) I F 1002 rs369484186 Disease: Night blindness, congenital stationary, 1C (CSNB1C) [MIM:613216]
48299 Q7Z4N2 (TRPM1) Q H 1161 rs182549235 Benign
48300 Q7Z4N2 (TRPM1) N T 1229 rs17227996 Benign
48301 Q7Z4N2 (TRPM1) R H 1305 rs13380059 Benign
48302 Q7Z4N2 (TRPM1) P T 1379 rs61734298 Benign
48303 Q7Z4N2 (TRPM1) V I 1395 rs3784588 Benign
48304 Q7Z4N2 (TRPM1) R G 1422 rs3784587 Benign
48305 Q7Z4N2 (TRPM1) R W 1422 - Benign
48306 Q7Z4N2 (TRPM1) H Q 1498 rs12898290 Benign
48307 Q7Z4N8 (P4HA3) D N 400 rs2282488 Benign
48308 Q7Z4Q2 (HEATR3) R S 302 rs34703459 Benign
48309 Q7Z4S6 (KIF21A) D E 352 - Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48310 Q7Z4S6 (KIF21A) M T 356 rs121912588 Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48311 Q7Z4S6 (KIF21A) E Q 944 - Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48312 Q7Z4S6 (KIF21A) M R 947 rs121912590 Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48313 Q7Z4S6 (KIF21A) M T 947 - Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48314 Q7Z4S6 (KIF21A) M V 947 rs121912589 Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48315 Q7Z4S6 (KIF21A) R L 954 - Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48316 Q7Z4S6 (KIF21A) R Q 954 rs121912586 Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48317 Q7Z4S6 (KIF21A) R W 954 rs121912585 Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48318 Q7Z4S6 (KIF21A) A P 1008 - Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48319 Q7Z4S6 (KIF21A) I T 1010 rs121912587 Disease: Fibrosis of extraocular muscles, congenital, 1 (CFEOM1) [MIM:135700]
48320 Q7Z4T8 (GALNTL5) C R 124 rs6960270 Benign
48321 Q7Z4T8 (GALNTL5) G A 206 rs61729482 Benign
48322 Q7Z4T9 (CFAP91) A P 207 rs6438544 Benign
48323 Q7Z4T9 (CFAP91) S T 253 rs9817771 Benign
48324 Q7Z4T9 (CFAP91) S C 320 rs9819218 Benign
48325 Q7Z4U5 (C6orf201) R P 20 rs619483 Benign
48326 Q7Z4U5 (C6orf201) D Y 25 rs9503910 Benign
48327 Q7Z4U5 (C6orf201) N K 117 rs643232 Benign
48328 Q7Z4V0 (ZNF438) P S 173 rs10160116 Benign
48329 Q7Z4V0 (ZNF438) L V 693 rs35346752 Benign
48330 Q7Z4W2 (LYZL2) D G 144 rs1054570 Benign
48331 Q7Z553 (MDGA2) V F 608 rs12590500 Benign
48332 Q7Z570 (ZNF804A) Q L 261 rs12476147 Benign
48333 Q7Z570 (ZNF804A) D G 479 rs35676856 Benign
48334 Q7Z570 (ZNF804A) E K 542 rs4667001 Benign
48335 Q7Z570 (ZNF804A) K R 600 rs35925696 Benign
48336 Q7Z570 (ZNF804A) T K 707 rs1366842 Benign
48337 Q7Z570 (ZNF804A) H R 747 rs12477430 Benign
48338 Q7Z570 (ZNF804A) L V 1081 rs3731834 Benign
48339 Q7Z570 (ZNF804A) G R 1152 rs12105159 Benign
48340 Q7Z572 (SPATA21) I L 53 rs12087671 Benign
48341 Q7Z572 (SPATA21) Q R 184 rs4661746 Benign
48342 Q7Z572 (SPATA21) V L 255 rs525409 Benign
48343 Q7Z572 (SPATA21) N K 390 rs12133574 Benign
48344 Q7Z591 (AKNA) P L 624 rs3748176 Benign
48345 Q7Z591 (AKNA) Q R 1097 rs1265891 Benign
48346 Q7Z591 (AKNA) R Q 1119 rs3748178 Benign
48347 Q7Z591 (AKNA) S P 1303 rs2250242 Benign
48348 Q7Z591 (AKNA) Y C 1327 rs2787344 Benign
48349 Q7Z5B4 (RIC3) P H 57 rs17855498 Benign
48350 Q7Z5B4 (RIC3) C Y 130 rs55990541 Benign
48351 Q7Z5H3 (ARHGAP22) T K 410 rs1867586 Benign
48352 Q7Z5H3 (ARHGAP22) R C 612 rs3747853 Benign
48353 Q7Z5H4 (VN1R5) R C 350 rs41308154 Benign
48354 Q7Z5H5 (VN1R4) A V 52 rs74429916 Benign
48355 Q7Z5H5 (VN1R4) R L 58 rs140031028 Benign
48356 Q7Z5H5 (VN1R4) D N 220 rs12977715 Benign
48357 Q7Z5J4 (RAI1) G A 90 rs3803763 Benign
48358 Q7Z5J4 (RAI1) P T 165 rs11649804 Benign
48359 Q7Z5J4 (RAI1) Q P 939 rs1759075 Benign
48360 Q7Z5J8 (ANKAR) I V 675 rs16831887 Benign
48361 Q7Z5J8 (ANKAR) L F 1077 rs1225090 Benign
48362 Q7Z5K2 (WAPL) V I 124 rs10887621 Benign
48363 Q7Z5L0 (VMO1) T A 26 rs4790706 Benign
48364 Q7Z5L0 (VMO1) T S 77 rs2279961 Benign
48365 Q7Z5L2 (R3HCC1L) S P 113 rs12775148 Benign
48366 Q7Z5L2 (R3HCC1L) K N 238 rs7922159 Benign
48367 Q7Z5L2 (R3HCC1L) S G 261 rs35373035 Benign
48368 Q7Z5L2 (R3HCC1L) D A 535 rs34494334 Benign
48369 Q7Z5L2 (R3HCC1L) P S 546 rs35122894 Benign
48370 Q7Z5L2 (R3HCC1L) H R 566 rs11189513 Benign
48371 Q7Z5L2 (R3HCC1L) H R 656 rs1952061 Benign
48372 Q7Z5L4 (SPATA19) A V 50 rs2282602 Benign
48373 Q7Z5L7 (PODN) T M 444 rs12567021 Benign
48374 Q7Z5L7 (PODN) V A 472 rs1288389 Benign
48375 Q7Z5L9 (IRF2BP2) A V 254 rs11502 Benign
48376 Q7Z5L9 (IRF2BP2) S N 551 rs1553319504 Disease: Immunodefici ency, common variable, 14 (CVID14) [MIM:617765]
48377 Q7Z5M5 (TMC3) V I 196 rs7497202 Benign
48378 Q7Z5M5 (TMC3) C Y 893 rs11636318 Benign
48379 Q7Z5M5 (TMC3) R K 1012 rs8031046 Benign
48380 Q7Z5M5 (TMC3) D N 1099 rs4417518 Benign
48381 Q7Z5M8 (ABHD12B) F L 334 rs7154732 Benign
48382 Q7Z5N4 (SDK1) D N 1016 rs11978101 Benign
48383 Q7Z5N4 (SDK1) H R 1641 rs671694 Benign
48384 Q7Z5P9 (MUC19) G E 717 rs7955308 Benign
48385 Q7Z5P9 (MUC19) T K 783 rs11564170 Benign
48386 Q7Z5P9 (MUC19) V I 790 rs7958987 Benign
48387 Q7Z5P9 (MUC19) R L 791 rs17467284 Benign
48388 Q7Z5P9 (MUC19) D H 803 rs11564245 Benign
48389 Q7Z5P9 (MUC19) V I 843 rs10506156 Benign
48390 Q7Z5P9 (MUC19) V I 869 rs28365246 Benign
48391 Q7Z5P9 (MUC19) V I 883 rs11564125 Benign
48392 Q7Z5P9 (MUC19) L F 1010 rs12317988 Benign
48393 Q7Z5P9 (MUC19) I T 1151 rs11176635 Benign
48394 Q7Z5P9 (MUC19) S F 1226 rs4768261 Benign
48395 Q7Z5P9 (MUC19) I M 1278 rs7966110 Benign
48396 Q7Z5P9 (MUC19) G S 1296 rs4768264 Benign
48397 Q7Z5P9 (MUC19) R H 1315 rs7312154 Benign
48398 Q7Z5P9 (MUC19) G W 1327 rs12369002 Benign
48399 Q7Z5P9 (MUC19) A T 1367 rs11564141 Benign
48400 Q7Z5P9 (MUC19) C Y 1411 rs11564109 Benign
48401 Q7Z5P9 (MUC19) A T 1451 rs11176666 Benign
48402 Q7Z5P9 (MUC19) A V 1493 rs10784621 Benign
48403 Q7Z5P9 (MUC19) N S 1621 rs17128169 Benign
48404 Q7Z5P9 (MUC19) T A 1688 rs17128233 Benign
48405 Q7Z5P9 (MUC19) E A 1762 rs2933353 Benign
48406 Q7Z5P9 (MUC19) S R 1770 rs7956459 Benign
48407 Q7Z5P9 (MUC19) A S 2029 rs1492333 Benign
48408 Q7Z5Q5 (POLN) Q H 121 rs2353552 Benign
48409 Q7Z5Q5 (POLN) R G 201 rs35884361 Benign
48410 Q7Z5Q5 (POLN) M L 310 rs10018786 Benign
48411 Q7Z5Q5 (POLN) P S 315 rs11725880 Benign
48412 Q7Z5Q5 (POLN) G S 336 rs10011549 Benign
48413 Q7Z5Q5 (POLN) R C 425 rs9328764 Benign
48414 Q7Z5Q5 (POLN) S G 502 rs34574483 Benign
48415 Q7Z5Q5 (POLN) F L 711 rs34554757 Benign
48416 Q7Z5R6 (APBB1IP) T A 404 rs34081356 Benign
48417 Q7Z5R6 (APBB1IP) A T 617 rs7903226 Benign
48418 Q7Z5S9 (TMEM144) D G 157 rs34277853 Benign
48419 Q7Z5U6 (WDR53) H P 338 rs1048032 Benign
48420 Q7Z5V6 (PPP1R32) T N 238 rs11230707 Benign
48421 Q7Z5V6 (PPP1R32) S T 382 rs12787061 Benign
48422 Q7Z5W3 (BCDIN3D) S R 288 rs11169172 Benign
48423 Q7Z5Y6 (BMP8A) M V 84 rs4660269 Benign
48424 Q7Z5Y6 (BMP8A) R H 293 rs6525 Benign
48425 Q7Z5Y7 (KCTD20) S T 171 rs2239808 Benign
48426 Q7Z601 (GPR142) H N 132 rs2382647 Benign
48427 Q7Z602 (GPR141) R H 72 rs772202718 Benign
48428 Q7Z614 (SNX20) P L 35 rs1131716 Benign
48429 Q7Z628 (NET1) T I 417 rs34658946 Benign
48430 Q7Z695 (ADCK2) S G 66 rs2968558 Benign
48431 Q7Z695 (ADCK2) S P 307 rs1140034 Benign
48432 Q7Z695 (ADCK2) V L 418 rs3748092 Benign
48433 Q7Z695 (ADCK2) V M 418 rs3748092 Benign
48434 Q7Z695 (ADCK2) P L 622 rs1046515 Benign
48435 Q7Z695 (ADCK2) P L 626 rs55922126 Benign
48436 Q7Z699 (SPRED1) W C 31 - Disease: Legius syndrome (LGSS) [MIM:611431]
48437 Q7Z699 (SPRED1) V D 44 rs121434318 Disease: Legius syndrome (LGSS) [MIM:611431]
48438 Q7Z6A9 (BTLA) I V 124 rs16859633 Benign
48439 Q7Z6A9 (BTLA) R S 157 rs2931761 Benign
48440 Q7Z6A9 (BTLA) P L 267 rs9288952 Benign
48441 Q7Z6B0 (CCDC91) M V 261 rs1133028 Benign
48442 Q7Z6B0 (CCDC91) V M 314 rs10771427 Benign
48443 Q7Z6B7 (SRGAP1) Q H 149 rs781626187 Disease: Thyroid cancer, non- medullary, 2 (NMTC2) [MIM:188470]
48444 Q7Z6B7 (SRGAP1) A T 275 rs797044990 Disease: Thyroid cancer, non- medullary, 2 (NMTC2) [MIM:188470]
48445 Q7Z6B7 (SRGAP1) V I 512 rs74691643 Benign
48446 Q7Z6B7 (SRGAP1) R C 617 rs114817817 Disease: Thyroid cancer, non- medullary, 2 (NMTC2) [MIM:188470]
48447 Q7Z6B7 (SRGAP1) H R 875 rs61754221 Disease: Thyroid cancer, non- medullary, 2 (NMTC2) [MIM:188470]
48448 Q7Z6E9 (RBBP6) D H 43 rs16973796 Benign
48449 Q7Z6E9 (RBBP6) V A 555 rs16973840 Benign
48450 Q7Z6E9 (RBBP6) K I 1208 rs3743968 Benign
48451 Q7Z6G3 (NECAB2) G S 233 rs2292323 Benign
48452 Q7Z6G3 (NECAB2) T S 235 rs2292324 Benign
48453 Q7Z6G3 (NECAB2) Q H 308 rs2292329 Benign
48454 Q7Z6G3 (NECAB2) L V 353 rs2271298 Benign
48455 Q7Z6I6 (ARHGAP30) F L 70 rs17854839 Benign
48456 Q7Z6I6 (ARHGAP30) L V 591 rs3813609 Benign
48457 Q7Z6J0 (SH3RF1) P S 663 rs3811813 Benign
48458 Q7Z6J4 (FGD2) Q H 32 rs831510 Benign
48459 Q7Z6J8 (UBE3D) T P 174 rs12528542 Benign
48460 Q7Z6J8 (UBE3D) V M 379 rs7739323 Benign
48461 Q7Z6J9 (TSEN54) E D 4 rs7216673 Benign
48462 Q7Z6J9 (TSEN54) H Q 38 rs8079373 Benign
48463 Q7Z6J9 (TSEN54) S P 93 rs113994151 Disease: Pontocerebel lar hypoplasia 4 (PCH4) [MIM:225753]
48464 Q7Z6J9 (TSEN54) Y D 119 - Disease: Pontocerebel lar hypoplasia 2A (PCH2A) [MIM:277470]
48465 Q7Z6J9 (TSEN54) I L 137 rs11559205 Benign
48466 Q7Z6J9 (TSEN54) A S 307 rs113994152 Disease: Pontocerebel lar hypoplasia 4 (PCH4) [MIM:225753]
48467 Q7Z6J9 (TSEN54) K N 347 rs9911502 Benign
48468 Q7Z6J9 (TSEN54) A V 437 rs8064529 Benign
48469 Q7Z6J9 (TSEN54) G R 525 rs11870627 Benign
48470 Q7Z6L0 (PRRT2) P A 138 rs79182085 Benign
48471 Q7Z6L0 (PRRT2) D H 147 rs79568162 Benign
48472 Q7Z6L0 (PRRT2) A P 214 rs745594874 Benign
48473 Q7Z6L0 (PRRT2) P R 215 rs200926711 Benign
48474 Q7Z6L0 (PRRT2) P L 216 rs76335820 Benign
48475 Q7Z6L0 (PRRT2) G R 237 rs199556853 Benign
48476 Q7Z6L0 (PRRT2) R H 245 rs754897123 Benign
48477 Q7Z6L0 (PRRT2) R W 266 rs387907128 Disease: Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
48478 Q7Z6L0 (PRRT2) W R 281 - Disease: Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
48479 Q7Z6L0 (PRRT2) A T 287 - Disease: Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
48480 Q7Z6L0 (PRRT2) G R 305 rs767799831 Disease: Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
48481 Q7Z6L0 (PRRT2) R C 308 rs932713001 Disease: Episodic kinesigenic dyskinesia 1 (EKD1) [MIM:128200]
48482 Q7Z6L0 (PRRT2) S N 317 rs387907125 Disease: Convulsions, familial infantile, with paroxysmal choreoatheto sis (ICCA) [MIM:602066]
48483 Q7Z6L0 (PRRT2) G E 323 - Disease: Seizures, benign familial infantile, 2 (BFIS2) [MIM:605751]
48484 Q7Z6L1 (TECPR1) S Y 733 rs35623371 Benign
48485 Q7Z6L1 (TECPR1) P L 944 rs11762014 Benign
48486 Q7Z6M1 (RABEPK) P A 58 rs13302059 Benign
48487 Q7Z6M1 (RABEPK) R G 60 rs17855990 Benign
48488 Q7Z6M1 (RABEPK) T P 67 rs13302050 Benign
48489 Q7Z6M1 (RABEPK) H Y 73 rs1128362 Benign
48490 Q7Z6M1 (RABEPK) S C 95 rs34991596 Benign
48491 Q7Z6M1 (RABEPK) D G 313 rs17849326 Benign
48492 Q7Z6M1 (RABEPK) M I 333 rs15233 Benign
48493 Q7Z6M4 (MTERF4) T A 45 rs3796093 Benign
48494 Q7Z6M4 (MTERF4) M T 189 rs2286323 Benign
48495 Q7Z6M4 (MTERF4) L V 339 rs2240539 Benign
48496 Q7Z6M4 (MTERF4) D E 347 rs10203977 Benign
48497 Q7Z6M4 (MTERF4) D E 378 rs10167328 Benign
48498 Q7Z6W7 (DNAJB7) E A 41 rs2269619 Benign
48499 Q7Z6Z6 (PNPLA5) L F 140 rs2071883 Benign
48500 Q7Z6Z6 (PNPLA5) T I 200 rs10428037 Benign
48501 Q7Z6Z6 (PNPLA5) W R 286 rs739231 Benign
48502 Q7Z6Z7 (HUWE1) R Q 110 rs1557036768 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48503 Q7Z6Z7 (HUWE1) R W 110 rs1057520538 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48504 Q7Z6Z7 (HUWE1) S F 115 rs1557036757 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48505 Q7Z6Z7 (HUWE1) N S 483 rs41307640 Benign
48506 Q7Z6Z7 (HUWE1) G R 660 rs1557006903 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48507 Q7Z6Z7 (HUWE1) H Q 669 rs1557006873 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48508 Q7Z6Z7 (HUWE1) M V 1328 rs1556978515 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48509 Q7Z6Z7 (HUWE1) I M 2089 rs1556955128 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48510 Q7Z6Z7 (HUWE1) R H 2981 rs121918526 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48511 Q7Z6Z7 (HUWE1) R C 3070 rs886041876 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48512 Q7Z6Z7 (HUWE1) F S 3194 - Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48513 Q7Z6Z7 (HUWE1) R W 4013 rs121918525 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48514 Q7Z6Z7 (HUWE1) R C 4023 rs1556914274 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48515 Q7Z6Z7 (HUWE1) R Q 4063 - Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48516 Q7Z6Z7 (HUWE1) I F 4069 rs1556913268 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48517 Q7Z6Z7 (HUWE1) N K 4075 rs1556913258 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48518 Q7Z6Z7 (HUWE1) Y C 4106 rs1556913180 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48519 Q7Z6Z7 (HUWE1) L V 4157 rs1556912828 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48520 Q7Z6Z7 (HUWE1) R C 4187 rs121918527 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48521 Q7Z6Z7 (HUWE1) E D 4244 rs1556910184 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48522 Q7Z6Z7 (HUWE1) K N 4295 - Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48523 Q7Z6Z7 (HUWE1) G R 4310 rs1556909287 Disease: Mental retardation, X-linked, syndromic, Turner type (MRXST) [MIM:309590]
48524 Q7Z713 (ANKRD37) T S 152 rs4317244 Benign
48525 Q7Z736 (PLEKHH3) Q H 547 rs8071056 Benign
48526 Q7Z745 (MROH2B) M V 11 rs13174484 Benign
48527 Q7Z745 (MROH2B) W R 191 rs865093 Benign
48528 Q7Z745 (MROH2B) L I 263 rs10045243 Benign
48529 Q7Z745 (MROH2B) E V 468 rs17198125 Benign
48530 Q7Z745 (MROH2B) V I 496 rs325864 Benign
48531 Q7Z745 (MROH2B) R H 526 rs13173930 Benign
48532 Q7Z745 (MROH2B) K N 617 rs17854768 Benign
48533 Q7Z745 (MROH2B) D V 648 rs16870720 Benign
48534 Q7Z745 (MROH2B) M V 781 rs10067611 Benign
48535 Q7Z745 (MROH2B) N K 918 rs10054110 Benign
48536 Q7Z745 (MROH2B) L P 1179 rs2271704 Benign
48537 Q7Z794 (KRT77) A T 10 rs17118224 Benign
48538 Q7Z7A1 (CNTRL) V I 56 rs10818503 Benign
48539 Q7Z7A1 (CNTRL) P L 216 rs10818504 Benign
48540 Q7Z7A1 (CNTRL) A T 889 rs17292952 Benign
48541 Q7Z7A1 (CNTRL) M V 1146 rs35342437 Benign
48542 Q7Z7A3 (CTU1) A V 107 rs17855403 Benign
48543 Q7Z7A4 (PXK) I V 426 rs55973253 Benign
48544 Q7Z7A4 (PXK) K R 481 rs56384862 Benign
48545 Q7Z7A4 (PXK) A V 525 rs34579268 Benign
48546 Q7Z7A4 (PXK) A V 535 rs34579268 Benign
48547 Q7Z7B0 (FILIP1) P S 1003 rs34807169 Benign
48548 Q7Z7B1 (PIGW) T P 71 rs587777733 Disease: Glycosylphos phatidylinos itol biosynthesis defect 11 (GPIBD11) [MIM:616025]
48549 Q7Z7B1 (PIGW) M V 167 rs200024253 Disease: Glycosylphos phatidylinos itol biosynthesis defect 11 (GPIBD11) [MIM:616025]
48550 Q7Z7B8 (DEFB128) K N 27 rs4813043 Benign
48551 Q7Z7F7 (MRPL55) R C 24 rs822730 Benign
48552 Q7Z7F7 (MRPL55) R H 42 rs35265990 Benign
48553 Q7Z7G1 (CLNK) S G 65 rs16869924 Benign
48554 Q7Z7G8 (VPS13B) A T 829 rs61753721 Benign
48555 Q7Z7G8 (VPS13B) V I 866 rs150185067 Benign
48556 Q7Z7G8 (VPS13B) P L 1138 rs35342235 Benign
48557 Q7Z7G8 (VPS13B) I V 1994 rs139640224 Benign
48558 Q7Z7G8 (VPS13B) Y C 2341 rs386834104 Disease: Cohen syndrome (COH1) [MIM:216550]
48559 Q7Z7G8 (VPS13B) V I 2481 rs201963516 Benign
48560 Q7Z7G8 (VPS13B) V A 2584 rs7833870 Benign
48561 Q7Z7G8 (VPS13B) G D 2645 rs120074153 Disease: Cohen syndrome (COH1) [MIM:216550]
48562 Q7Z7G8 (VPS13B) S L 2773 rs180177370 Disease: Cohen syndrome (COH1) [MIM:216550]
48563 Q7Z7G8 (VPS13B) I T 2820 rs120074155 Disease: Cohen syndrome (COH1) [MIM:216550]
48564 Q7Z7G8 (VPS13B) Y C 2822 rs371325199 Benign
48565 Q7Z7G8 (VPS13B) N S 2993 rs28940272 Disease: Cohen syndrome (COH1) [MIM:216550]
48566 Q7Z7G8 (VPS13B) S R 3142 - Benign
48567 Q7Z7G8 (VPS13B) G R 3432 rs6468694 Benign
48568 Q7Z7H8 (MRPL10) V I 125 rs11538868 Benign
48569 Q7Z7J5 (DPPA2) R Q 131 rs9809030 Benign
48570 Q7Z7K2 (ZNF467) T A 324 rs6965332 Benign
48571 Q7Z7L1 (SLFN11) V F 121 rs12453150 Benign
48572 Q7Z7L1 (SLFN11) N D 301 rs4796077 Benign
48573 Q7Z7L1 (SLFN11) R L 489 rs9898983 Benign
48574 Q7Z7L1 (SLFN11) Y C 822 rs3803860 Benign
48575 Q7Z7L7 (ZER1) T I 539 rs13299702 Benign
48576 Q7Z7L8 (C11orf96) T A 26 rs1973717 Benign
48577 Q7Z7L8 (C11orf96) S P 47 rs12797684 Benign
48578 Q7Z7L8 (C11orf96) R S 110 rs12796438 Benign
48579 Q7Z7L8 (C11orf96) R C 144 rs12796667 Benign
48580 Q7Z7L8 (C11orf96) F S 151 rs12798337 Benign
48581 Q7Z7L8 (C11orf96) P S 352 rs2434483 Benign
48582 Q7Z7L9 (ZSCAN2) S T 191 rs2044502 Benign
48583 Q7Z7M0 (MEGF8) G R 199 - Disease: Carpenter syndrome 2 (CRPT2) [MIM:614976]
48584 Q7Z7M0 (MEGF8) R H 1566 rs397515427 Disease: Carpenter syndrome 2 (CRPT2) [MIM:614976]
48585 Q7Z7M0 (MEGF8) S G 2434 rs397515428 Disease: Carpenter syndrome 2 (CRPT2) [MIM:614976]
48586 Q7Z7M8 (B3GNT8) S G 137 rs284662 Benign
48587 Q7Z7M9 (GALNT5) P L 77 rs3739112 Benign
48588 Q7Z7M9 (GALNT5) Q H 489 rs6759356 Benign
48589 Q86SG4 (HMGN2P46) C R 91 rs8042811 Benign
48590 Q86SG5 (S100A7A) R H 23 rs55985140 Benign
48591 Q86SG5 (S100A7A) A T 84 rs3006414 Benign
48592 Q86SG6 (NEK8) L F 330 rs199962228 Disease: Nephronophth isis 9 (NPHP9) [MIM:613824]
48593 Q86SG6 (NEK8) H Y 425 rs118204032 Disease: Nephronophth isis 9 (NPHP9) [MIM:613824]
48594 Q86SG6 (NEK8) A P 497 rs146326420 Disease: Nephronophth isis 9 (NPHP9) [MIM:613824]
48595 Q86SH4 (PRNT) T S 50 rs7270737 Benign
48596 Q86SJ6 (DSG4) A T 154 rs13381457 Benign
48597 Q86SJ6 (DSG4) I T 535 rs7229252 Benign
48598 Q86SJ6 (DSG4) I L 644 rs4799570 Benign
48599 Q86SM8 (MRGPRE) G S 16 rs12295710 Benign
48600 Q86SM8 (MRGPRE) G S 160 rs4391795 Benign
48601 Q86SQ0 (PHLDB2) P S 941 rs3749298 Benign
48602 Q86SQ4 (ADGRG6) S G 123 rs17280293 Benign
48603 Q86SQ4 (ADGRG6) K Q 230 rs11155242 Benign
48604 Q86SQ4 (ADGRG6) V E 741 - Disease: Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
48605 Q86SQ4 (ADGRG6) V E 769 rs793888525 Disease: Lethal congenital contracture syndrome 9 (LCCS9) [MIM:616503]
48606 Q86SQ4 (ADGRG6) R Q 1057 rs536714306 Benign
48607 Q86SQ4 (ADGRG6) Q R 1127 rs1262686 Benign
48608 Q86SQ6 (ADGRA1) A S 183 rs34915504 Benign
48609 Q86SQ6 (ADGRA1) Q L 214 rs34679676 Benign
48610 Q86SQ7 (SDCCAG8) E D 378 rs2275155 Benign
48611 Q86SQ9 (DHDDS) K E 42 rs147394623 Disease: Retinitis pigmentosa 59 (RP59) [MIM:613861]
48612 Q86SQ9 (DHDDS) V M 253 rs3816539 Benign
48613 Q86SS6 (SYT9) V M 154 rs78477754 Benign
48614 Q86SS6 (SYT9) I V 238 rs1001166978 Benign
48615 Q86SS6 (SYT9) L V 353 rs117876446 Benign
48616 Q86SU0 (ILDR1) R Q 97 rs771818841 Disease: Deafness, autosomal recessive, 42 (DFNB42) [MIM:609646]
48617 Q86SU0 (ILDR1) I V 357 rs1448131970 Benign
48618 Q86SU0 (ILDR1) R C 463 rs778163752 Benign
48619 Q86SX6 (GLRX5) K Q 101 rs869312752 Disease: Anemia, sideroblasti c, 3, pyridoxine- refractory (SIDBA3) [MIM:616860]
48620 Q86SX6 (GLRX5) A T 146 rs11628901 Benign
48621 Q86SX6 (GLRX5) L S 148 rs765487627 Disease: Anemia, sideroblasti c, 3, pyridoxine- refractory (SIDBA3) [MIM:616860]
48622 Q86T26 (TMPRSS11B) I V 242 rs12331141 Benign
48623 Q86T26 (TMPRSS11B) D A 325 rs2319796 Benign
48624 Q86T26 (TMPRSS11B) T S 348 rs2319797 Benign
48625 Q86T65 (DAAM2) R H 105 rs6919807 Benign
48626 Q86T65 (DAAM2) R H 617 rs34699846 Benign
48627 Q86T82 (USP37) L S 979 rs6436058 Benign
48628 Q86T90 (KIAA1328) R C 383 rs12326301 Benign
48629 Q86TB3 (ALPK2) K T 2 rs6566987 Benign
48630 Q86TB3 (ALPK2) A V 29 rs138405027 Benign
48631 Q86TB3 (ALPK2) R S 136 rs9944810 Benign
48632 Q86TB3 (ALPK2) A T 202 rs115979836 Benign
48633 Q86TB3 (ALPK2) S L 388 rs147887741 Benign
48634 Q86TB3 (ALPK2) T I 397 rs79863383 Benign
48635 Q86TB3 (ALPK2) A V 457 rs199872766 Benign
48636 Q86TB3 (ALPK2) H Q 719 rs12103986 Benign
48637 Q86TB3 (ALPK2) G S 810 rs3809970 Benign
48638 Q86TB3 (ALPK2) R T 825 rs3809972 Benign
48639 Q86TB3 (ALPK2) K N 829 rs3809973 Benign
48640 Q86TB3 (ALPK2) T P 875 rs34109891 Benign
48641 Q86TB3 (ALPK2) S L 884 rs3809974 Benign
48642 Q86TB3 (ALPK2) T I 891 rs3826593 Benign
48643 Q86TB3 (ALPK2) N K 916 rs4940404 Benign
48644 Q86TB3 (ALPK2) A T 969 rs371835741 Benign
48645 Q86TB3 (ALPK2) S T 977 rs3809975 Benign
48646 Q86TB3 (ALPK2) L V 1057 rs3809976 Benign
48647 Q86TB3 (ALPK2) G V 1063 rs34347938 Benign
48648 Q86TB3 (ALPK2) K N 1134 rs35791514 Benign
48649 Q86TB3 (ALPK2) H P 1174 rs3809977 Benign
48650 Q86TB3 (ALPK2) L S 1288 rs35882005 Benign
48651 Q86TB3 (ALPK2) L V 1296 rs3809976 Benign
48652 Q86TB3 (ALPK2) P S 1449 rs3809982 Benign
48653 Q86TB3 (ALPK2) A S 1551 rs3809983 Benign
48654 Q86TB3 (ALPK2) Q R 1579 rs33910491 Benign
48655 Q86TB3 (ALPK2) K E 1729 rs34409558 Benign
48656 Q86TB3 (ALPK2) K E 1730 rs17065127 Benign
48657 Q86TB3 (ALPK2) K N 1745 rs56206581 Benign
48658 Q86TB3 (ALPK2) H Y 1767 rs7234999 Benign
48659 Q86TB3 (ALPK2) Q E 1853 rs55674018 Benign
48660 Q86TB3 (ALPK2) R C 1884 rs33969768 Benign
48661 Q86TB3 (ALPK2) A T 1919 rs374271622 Benign
48662 Q86TB3 (ALPK2) E K 1969 rs1313881443 Benign
48663 Q86TB3 (ALPK2) A T 1978 rs146618330 Benign
48664 Q86TB3 (ALPK2) I V 2157 rs7240666 Benign
48665 Q86TC9 (MYPN) Y C 20 rs140148105 Disease: Cardiomyopat hy, familial hypertrophic 22 (CMH22) [MIM:615248]
48666 Q86TC9 (MYPN) K R 153 rs199476401 Disease: Cardiomyopat hy, familial hypertrophic 22 (CMH22) [MIM:615248]
48667 Q86TC9 (MYPN) I V 213 rs199476402 Disease: Cardiomyopat hy, dilated 1KK (CMD1KK) [MIM:615248]
48668 Q86TC9 (MYPN) A E 217 rs199476403 Disease: Cardiomyopat hy, familial hypertrophic 22 (CMH22) [MIM:615248]
48669 Q86TC9 (MYPN) Y F 339 rs199476404 Disease: Cardiomyopat hy, dilated 1KK (CMD1KK) [MIM:615248]
48670 Q86TC9 (MYPN) V A 393 rs11596653 Benign
48671 Q86TC9 (MYPN) V A 410 rs199476406 Disease: Cardiomyopat hy, familial hypertrophic 22 (CMH22) [MIM:615248]
48672 Q86TC9 (MYPN) E K 467 rs74143030 Benign
48673 Q86TC9 (MYPN) A T 611 rs199476409 Disease: Cardiomyopat hy, dilated 1KK (CMD1KK) [MIM:615248]
48674 Q86TC9 (MYPN) E K 614 rs143338091 Benign
48675 Q86TC9 (MYPN) F L 628 rs10823148 Benign
48676 Q86TC9 (MYPN) S N 691 rs10997975 Benign
48677 Q86TC9 (MYPN) N S 698 rs181355189 Benign
48678 Q86TC9 (MYPN) S N 707 rs7916821 Benign
48679 Q86TC9 (MYPN) S R 803 rs3814182 Benign
48680 Q86TC9 (MYPN) G R 804 rs62620248 Benign
48681 Q86TC9 (MYPN) P T 841 rs199476410 Disease: Cardiomyopat hy, familial hypertrophic 22 (CMH22) [MIM:615248]
48682 Q86TC9 (MYPN) A T 882 rs199476411 Disease: Cardiomyopat hy, dilated 1KK (CMD1KK) [MIM:615248]
48683 Q86TC9 (MYPN) F L 954 rs199476413 Disease: Cardiomyopat hy, dilated 1KK (CMD1KK) [MIM:615248]
48684 Q86TC9 (MYPN) R Q 955 rs199476414 Benign
48685 Q86TC9 (MYPN) P L 961 rs864621995 Disease: Cardiomyopat hy, dilated 1KK (CMD1KK) [MIM:615248]
48686 Q86TC9 (MYPN) R H 1088 rs71584501 Disease: Cardiomyopat hy, dilated 1KK (CMD1KK) [MIM:615248]
48687 Q86TC9 (MYPN) P L 1112 rs71534278 Disease: Cardiomyopat hy, familial hypertrophic 22 (CMH22) [MIM:615248]
48688 Q86TC9 (MYPN) P T 1135 rs7079481 Benign
48689 Q86TC9 (MYPN) L I 1161 rs138313730 Benign
48690 Q86TC9 (MYPN) V M 1195 rs71534280 Disease: Cardiomyopat hy, dilated 1KK (CMD1KK) [MIM:615248]
48691 Q86TC9 (MYPN) A P 1265 rs199476416 Disease: Cardiomyopat hy, familial hypertrophic 22 (CMH22) [MIM:615248]
48692 Q86TC9 (MYPN) V G 1306 rs199476417 Benign
48693 Q86TE4 (LUZP2) E Q 308 rs7930185 Benign
48694 Q86TH1 (ADAMTSL2) W C 50 rs1395219766 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48695 Q86TH1 (ADAMTSL2) R Q 72 rs387907064 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48696 Q86TH1 (ADAMTSL2) R H 113 rs113994122 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48697 Q86TH1 (ADAMTSL2) E K 114 rs113994123 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48698 Q86TH1 (ADAMTSL2) P L 147 rs113994121 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48699 Q86TH1 (ADAMTSL2) R W 159 rs776178041 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48700 Q86TH1 (ADAMTSL2) A T 165 rs764516811 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48701 Q86TH1 (ADAMTSL2) C R 171 - Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48702 Q86TH1 (ADAMTSL2) R C 221 rs387907065 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48703 Q86TH1 (ADAMTSL2) A T 239 - Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48704 Q86TH1 (ADAMTSL2) V I 364 rs35767802 Benign
48705 Q86TH1 (ADAMTSL2) R C 593 - Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48706 Q86TH1 (ADAMTSL2) S L 635 - Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48707 Q86TH1 (ADAMTSL2) G R 811 rs113994124 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48708 Q86TH1 (ADAMTSL2) P L 906 rs969732840 Disease: Geleophysic dysplasia 1 (GPHYSD1) [MIM:231050]
48709 Q86TI0 (TBC1D1) S P 14 rs2279027 Benign
48710 Q86TI0 (TBC1D1) T I 55 rs4008480 Benign
48711 Q86TI0 (TBC1D1) R W 125 rs35859249 Benign
48712 Q86TI0 (TBC1D1) V G 228 rs10501 Benign
48713 Q86TI0 (TBC1D1) Y S 685 rs7677030 Benign
48714 Q86TI0 (TBC1D1) R Q 1136 rs13110318 Benign
48715 Q86TI4 (WDR86) M T 355 rs4141455 Benign
48716 Q86TJ5 (ZNF554) E G 190 rs867168 Benign
48717 Q86TJ5 (ZNF554) V I 211 rs867169 Benign
48718 Q86TM3 (DDX53) V A 62 rs4412516 Benign
48719 Q86TM3 (DDX53) M I 381 rs5925720 Benign
48720 Q86TM3 (DDX53) R M 391 rs5926203 Benign
48721 Q86TN4 (TRPT1) F L 3 rs12788168 Benign
48722 Q86TN4 (TRPT1) H R 172 rs1059440 Benign
48723 Q86TN4 (TRPT1) R C 221 rs11549690 Benign
48724 Q86TP1 (PRUNE1) D N 30 rs1057521927 Disease: Neurodevelop mental disorder with microcephaly , hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
48725 Q86TP1 (PRUNE1) D N 106 rs773618224 Disease: Neurodevelop mental disorder with microcephaly , hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
48726 Q86TP1 (PRUNE1) R Q 128 rs767769359 Disease: Neurodevelop mental disorder with microcephaly , hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
48727 Q86TP1 (PRUNE1) R W 297 rs752599948 Disease: Neurodevelop mental disorder with microcephaly , hypotonia, and variable brain anomalies (NMIHBA) [MIM:617481]
48728 Q86TP1 (PRUNE1) G R 397 rs3738477 Benign
48729 Q86TP1 (PRUNE1) G S 397 rs3738477 Benign
48730 Q86TS9 (MRPL52) G V 5 rs1135641 Benign
48731 Q86TS9 (MRPL52) V A 19 rs4982685 Benign
48732 Q86TS9 (MRPL52) K R 104 rs11538931 Benign
48733 Q86TU6 (LINC00523) E D 21 rs8011237 Benign
48734 Q86TU7 (SETD3) N D 278 rs1740231 Benign
48735 Q86TX2 (ACOT1) R H 266 rs1049568 Benign
48736 Q86TY3 (ARMH4) T I 96 rs3829765 Benign
48737 Q86TY3 (ARMH4) A V 391 rs1018504 Benign
48738 Q86TY3 (ARMH4) V F 528 rs12886921 Benign
48739 Q86TY3 (ARMH4) Q E 613 rs2273442 Benign
48740 Q86TZ1 (TTC6) I S 87 rs12896790 Benign
48741 Q86TZ1 (TTC6) A T 98 rs17768654 Benign
48742 Q86TZ1 (TTC6) T I 140 rs4901284 Benign
48743 Q86TZ1 (TTC6) T S 376 rs17107176 Benign
48744 Q86U06 (RBM23) D N 184 rs34246954 Benign
48745 Q86U06 (RBM23) F L 428 rs1127066 Benign
48746 Q86U10 (ASPG) C R 95 rs1770984 Benign
48747 Q86U10 (ASPG) L V 96 rs1744284 Benign
48748 Q86U10 (ASPG) S R 344 rs8012505 Benign
48749 Q86U17 (SERPINA11) E A 230 rs1885137 Benign
48750 Q86U17 (SERPINA11) T S 406 rs17752285 Benign
48751 Q86U28 (ISCA2) G S 77 rs730882246 Disease: Multiple mitochondria l dysfunctions syndrome 4 (MMDS4) [MIM:616370]
48752 Q86U38 (NOP9) P S 51 rs11848295 Benign
48753 Q86U38 (NOP9) S N 308 rs4280164 Benign
48754 Q86U86 (PBRM1) T A 56 rs923060956 Benign
48755 Q86U86 (PBRM1) R G 66 rs368888772 Benign
48756 Q86U86 (PBRM1) R C 202 rs765525545 Benign
48757 Q86U86 (PBRM1) E K 206 rs1359676390 Benign
48758 Q86U86 (PBRM1) I V 228 rs201022657 Benign
48759 Q86U86 (PBRM1) A T 256 rs776146971 Benign
48760 Q86U86 (PBRM1) G A 340 rs200106731 Benign
48761 Q86U86 (PBRM1) R C 678 rs1422119249 Benign
48762 Q86U86 (PBRM1) Y C 893 rs753344888 Benign
48763 Q86U86 (PBRM1) A S 1098 rs201156614 Benign
48764 Q86U86 (PBRM1) R Q 1120 rs35102895 Benign
48765 Q86U86 (PBRM1) R C 1647 rs200020801 Benign
48766 Q86UA6 (RPAIN) N K 103 rs12761 Benign
48767 Q86UB9 (TMEM135) P H 193 rs17854687 Benign
48768 Q86UB9 (TMEM135) G R 218 rs2276102 Benign
48769 Q86UB9 (TMEM135) G A 430 rs11235097 Benign
48770 Q86UC2 (RSPH3) N S 201 rs16889320 Benign
48771 Q86UC2 (RSPH3) R Q 213 rs34582178 Benign
48772 Q86UC2 (RSPH3) R Q 398 rs10455840 Benign
48773 Q86UC2 (RSPH3) M T 439 rs768994 Benign
48774 Q86UC2 (RSPH3) E K 484 rs12204826 Benign
48775 Q86UC2 (RSPH3) G D 518 rs3756987 Benign
48776 Q86UD1 (OAF) H R 210 rs2508489 Benign
48777 Q86UD1 (OAF) R H 217 rs2508490 Benign
48778 Q86UD3 (MARCHF3) R Q 68 rs34821177 Benign
48779 Q86UD4 (ZNF329) S N 99 rs2279333 Benign
48780 Q86UD4 (ZNF329) N D 182 rs34255209 Benign
48781 Q86UD5 (SLC9B2) I T 159 rs7672710 Benign
48782 Q86UD5 (SLC9B2) V A 161 rs7672707 Benign
48783 Q86UD5 (SLC9B2) F C 357 rs2276976 Benign
48784 Q86UD7 (TBC1D26) A V 206 rs11650318 Benign
48785 Q86UD7 (TBC1D26) G S 234 rs17855672 Benign
48786 Q86UE3 (ZNF546) Q R 201 rs17854378 Benign
48787 Q86UE3 (ZNF546) R T 243 rs2111543 Benign
48788 Q86UE3 (ZNF546) A V 253 rs2111544 Benign
48789 Q86UE3 (ZNF546) V E 298 rs17710336 Benign
48790 Q86UE3 (ZNF546) E G 427 rs12460371 Benign
48791 Q86UE3 (ZNF546) L F 452 rs7255186 Benign
48792 Q86UE3 (ZNF546) L F 652 rs12373540 Benign
48793 Q86UE4 (MTDH) T A 317 rs17854374 Benign
48794 Q86UE6 (LRRTM1) N S 330 rs6733871 Benign
48795 Q86UE8 (TLK2) H R 6 rs45550140 Benign
48796 Q86UE8 (TLK2) E D 54 - Benign
48797 Q86UE8 (TLK2) A G 95 rs2598147 Benign
48798 Q86UE8 (TLK2) A G 108 - Benign
48799 Q86UE8 (TLK2) R L 109 - Benign
48800 Q86UE8 (TLK2) R Q 262 rs762409144 Benign
48801 Q86UE8 (TLK2) H R 493 - Disease: Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
48802 Q86UE8 (TLK2) H R 518 - Disease: Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
48803 Q86UE8 (TLK2) R W 568 rs1283838287 Disease: Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
48804 Q86UE8 (TLK2) D N 629 - Disease: Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
48805 Q86UE8 (TLK2) P R 680 - Disease: Mental retardation, autosomal dominant 57 (MRD57) [MIM:618050]
48806 Q86UG4 (SLCO6A1) A V 27 rs13190449 Benign
48807 Q86UG4 (SLCO6A1) K R 381 rs17150488 Benign
48808 Q86UG4 (SLCO6A1) P A 527 rs10073333 Benign
48809 Q86UG4 (SLCO6A1) T R 654 rs10055840 Benign
48810 Q86UK0 (ABCA12) W C 199 rs16853238 Benign
48811 Q86UK0 (ABCA12) N H 237 rs11890512 Benign
48812 Q86UK0 (ABCA12) Q R 274 rs11890468 Benign
48813 Q86UK0 (ABCA12) R G 287 rs11891778 Benign
48814 Q86UK0 (ABCA12) T P 345 rs1295935868 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48815 Q86UK0 (ABCA12) S N 387 rs746315995 Disease: Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
48816 Q86UK0 (ABCA12) S T 459 rs7560008 Benign
48817 Q86UK0 (ABCA12) E G 550 rs16853149 Benign
48818 Q86UK0 (ABCA12) S T 777 rs7560008 Benign
48819 Q86UK0 (ABCA12) G D 1136 - Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48820 Q86UK0 (ABCA12) G R 1179 rs267606622 Disease: Ichthyosis, congenital, autosomal recessive 4B (ARCI4B) [MIM:242500]
48821 Q86UK0 (ABCA12) W S 1235 - Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48822 Q86UK0 (ABCA12) G D 1251 rs13414448 Benign
48823 Q86UK0 (ABCA12) N S 1380 rs28940269 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48824 Q86UK0 (ABCA12) G E 1381 rs28940268 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48825 Q86UK0 (ABCA12) I T 1494 rs1263698595 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48826 Q86UK0 (ABCA12) R H 1514 rs28940270 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48827 Q86UK0 (ABCA12) E K 1539 rs28940271 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48828 Q86UK0 (ABCA12) R C 1546 rs13401480 Benign
48829 Q86UK0 (ABCA12) G V 1559 rs1457513156 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48830 Q86UK0 (ABCA12) G S 1651 rs28940568 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48831 Q86UK0 (ABCA12) P L 1798 rs181314573 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48832 Q86UK0 (ABCA12) T K 1980 rs763858530 Disease: Ichthyosis, congenital, autosomal recessive 4A (ARCI4A) [MIM:601277]
48833 Q86UK0 (ABCA12) E K 2064 rs1213011 Benign
48834 Q86UK0 (ABCA12) D N 2365 rs726070 Benign
48835 Q86UK5 (EVC2) S G 230 rs4689278 Benign
48836 Q86UK5 (EVC2) I R 283 rs137852926 Disease: Ellis-van Creveld syndrome (EVC) [MIM:225500]
48837 Q86UK5 (EVC2) T A 699 rs730469 Benign
48838 Q86UK5 (EVC2) R W 950 rs137852928 Disease: Ellis-van Creveld syndrome (EVC) [MIM:225500]
48839 Q86UK7 (ZNF598) S Y 453 rs11556528 Benign
48840 Q86UK7 (ZNF598) A T 608 rs11248905 Benign
48841 Q86UK7 (ZNF598) T M 637 rs2286469 Benign
48842 Q86UK7 (ZNF598) C S 725 rs2286468 Benign
48843 Q86UP2 (KTN1) V M 282 rs2274073 Benign
48844 Q86UP2 (KTN1) L M 1233 rs372815686 Benign
48845 Q86UP3 (ZFHX4) I V 2036 rs16919452 Benign
48846 Q86UP3 (ZFHX4) V G 3033 rs16939380 Benign
48847 Q86UP6 (CUZD1) G S 156 rs35120257 Benign
48848 Q86UP8 (GTF2IRD2) N H 514 rs2529318 Benign
48849 Q86UQ0 (ZNF589) T A 12 rs9847953 Benign
48850 Q86UQ0 (ZNF589) T R 216 rs11718329 Benign
48851 Q86UQ4 (ABCA13) P L 506 rs1880738 Benign
48852 Q86UQ4 (ABCA13) R H 555 rs2361519 Benign
48853 Q86UQ4 (ABCA13) I S 767 rs17712293 Benign
48854 Q86UQ4 (ABCA13) E K 799 rs17547816 Benign
48855 Q86UQ4 (ABCA13) I V 1434 rs17132195 Benign
48856 Q86UQ4 (ABCA13) T I 1508 rs6583483 Benign
48857 Q86UQ4 (ABCA13) F L 1540 rs17712299 Benign
48858 Q86UQ4 (ABCA13) I K 1889 rs17132197 Benign
48859 Q86UQ4 (ABCA13) N D 2033 rs17661364 Benign
48860 Q86UQ4 (ABCA13) S L 2154 rs17092911 Benign
48861 Q86UQ4 (ABCA13) A E 2178 rs1880736 Benign
48862 Q86UQ4 (ABCA13) L S 2212 rs17132198 Benign
48863 Q86UQ4 (ABCA13) K R 2436 rs17132206 Benign
48864 Q86UQ4 (ABCA13) S A 2537 rs17132208 Benign
48865 Q86UQ4 (ABCA13) R W 2674 rs2222648 Benign
48866 Q86UQ4 (ABCA13) A V 3142 rs3931814 Benign
48867 Q86UQ4 (ABCA13) Y F 3851 rs17132289 Benign
48868 Q86UQ4 (ABCA13) N D 4277 rs4917152 Benign
48869 Q86UQ4 (ABCA13) Q R 4302 rs4917153 Benign
48870 Q86UQ4 (ABCA13) P A 4335 rs17132370 Benign
48871 Q86UQ8 (NFE4) A D 45 rs6465886 Benign
48872 Q86UQ8 (NFE4) Q R 116 rs2228687 Benign
48873 Q86UR1 (NOXA1) P L 286 rs34155071 Benign
48874 Q86UR5 (RIMS1) R H 820 rs121918302 Disease: Cone-rod dystrophy 7 (CORD7) [MIM:603649]
48875 Q86US8 (SMG6) R P 291 rs1885986 Benign
48876 Q86US8 (SMG6) K Q 294 rs216195 Benign
48877 Q86US8 (SMG6) N T 341 rs1885987 Benign
48878 Q86US8 (SMG6) N S 575 rs34047637 Benign
48879 Q86US8 (SMG6) A T 972 rs903160 Benign
48880 Q86US8 (SMG6) R C 984 rs35173108 Benign
48881 Q86US8 (SMG6) E K 1189 rs58801957 Benign
48882 Q86US8 (SMG6) H R 1233 rs2273980 Benign
48883 Q86UT6 (NLRX1) P S 63 rs643423 Benign
48884 Q86UT6 (NLRX1) R L 125 rs3809045 Benign
48885 Q86UT6 (NLRX1) A E 793 rs4245191 Benign
48886 Q86UT6 (NLRX1) A S 843 rs35500631 Benign
48887 Q86UT8 (CCDC84) W G 244 rs600648 Benign
48888 Q86UV5 (USP48) S C 125 rs4253886 Benign
48889 Q86UV5 (USP48) E K 135 rs12097805 Benign
48890 Q86UV6 (TRIM74) W R 13 rs121966 Benign
48891 Q86UW1 (SLC51A) V I 202 rs939885 Benign
48892 Q86UW6 (N4BP2) S I 101 rs17511668 Benign
48893 Q86UW6 (N4BP2) M V 196 rs10014170 Benign
48894 Q86UW6 (N4BP2) D N 611 rs794001 Benign
48895 Q86UW6 (N4BP2) T A 1587 rs2271395 Benign
48896 Q86UW7 (CADPS2) A T 298 rs17144625 Benign
48897 Q86UW9 (DTX2) A T 94 rs2462312 Benign
48898 Q86UW9 (DTX2) G E 384 rs1638152 Benign
48899 Q86UW9 (DTX2) T A 421 rs6979487 Benign
48900 Q86UX2 (ITIH5) E K 139 rs12761771 Benign
48901 Q86UX2 (ITIH5) N H 207 rs36056263 Benign
48902 Q86UX2 (ITIH5) N H 421 rs36056263 Benign
48903 Q86UX2 (ITIH5) V M 496 rs35892621 Benign
48904 Q86UX2 (ITIH5) T P 570 rs2275069 Benign
48905 Q86UX2 (ITIH5) R C 629 rs34213756 Benign
48906 Q86UX2 (ITIH5) F S 925 rs10795551 Benign
48907 Q86UX6 (STK32C) T A 334 rs17854384 Benign
48908 Q86UX6 (STK32C) A T 454 rs56109103 Benign
48909 Q86UX6 (STK32C) E K 467 rs55812591 Benign
48910 Q86UY5 (FAM83A) A T 237 rs7813708 Benign
48911 Q86UY8 (NT5DC3) A E 266 rs12184494 Benign
48912 Q86UZ6 (ZBTB46) T A 11 rs2281929 Benign
48913 Q86V15 (CASZ1) L P 38 - Disease: -
48914 Q86V20 (SHLD2) F L 132 rs3129520 Benign
48915 Q86V20 (SHLD2) S C 550 rs11202365 Benign
48916 Q86V20 (SHLD2) R H 747 rs11816168 Benign
48917 Q86V21 (AACS) I V 118 rs11549081 Benign
48918 Q86V21 (AACS) A V 470 rs59883951 Benign
48919 Q86V24 (ADIPOR2) Q R 39 rs12298275 Benign
48920 Q86V40 (TRABD2A) R H 143 rs1863772 Benign
48921 Q86V40 (TRABD2A) R Q 428 rs2288352 Benign
48922 Q86V40 (TRABD2A) P L 430 rs1649292 Benign
48923 Q86V42 (FAM124A) D H 181 rs17075482 Benign
48924 Q86V48 (LUZP1) S A 317 rs12091554 Benign
48925 Q86V48 (LUZP1) G S 458 rs477830 Benign
48926 Q86V48 (LUZP1) Q K 461 rs3765407 Benign
48927 Q86V48 (LUZP1) T I 491 rs35917050 Benign
48928 Q86V48 (LUZP1) D N 868 rs10799790 Benign
48929 Q86V48 (LUZP1) S N 1034 rs12066671 Benign
48930 Q86V59 (PNMA8A) S T 80 rs12610254 Benign
48931 Q86V59 (PNMA8A) C Y 97 rs7248888 Benign
48932 Q86V71 (ZNF429) H Y 650 rs2562473 Benign
48933 Q86V87 (FAM160B2) T A 315 rs35497596 Benign
48934 Q86V87 (FAM160B2) G R 667 rs7822461 Benign
48935 Q86VB7 (CD163) I V 342 rs4883263 Benign
48936 Q86VD1 (MORC1) T P 153 rs35282274 Benign
48937 Q86VD1 (MORC1) K M 322 rs17225637 Benign
48938 Q86VD1 (MORC1) D E 462 rs3762696 Benign
48939 Q86VD1 (MORC1) F I 470 rs4855576 Benign
48940 Q86VD1 (MORC1) M V 478 rs3762697 Benign
48941 Q86VD1 (MORC1) M I 649 rs35421732 Benign
48942 Q86VD1 (MORC1) S N 767 rs2290057 Benign
48943 Q86VD1 (MORC1) H Y 836 rs2593943 Benign
48944 Q86VD1 (MORC1) S C 982 rs16855035 Benign
48945 Q86VD1 (MORC1) S W 982 rs16855035 Benign
48946 Q86VD7 (SLC25A42) S P 39 rs17854359 Benign
48947 Q86VD7 (SLC25A42) N D 291 rs864321624 Disease: Metabolic crises, recurrent, with variable encephalomyo pathic features and neurologic regression (MECREN) [MIM:618416]
48948 Q86VD7 (SLC25A42) L M 312 rs17854358 Benign
48949 Q86VD9 (PIGZ) A T 266 rs574365 Benign
48950 Q86VD9 (PIGZ) R Q 340 rs4916589 Benign
48951 Q86VD9 (PIGZ) V A 417 rs1147238 Benign
48952 Q86VD9 (PIGZ) M I 487 rs17855662 Benign
48953 Q86VE3 (SATL1) W R 279 rs10126146 Benign
48954 Q86VF2 (IGFN1) T M 1056 rs6690992 Benign
48955 Q86VF2 (IGFN1) H Y 1095 rs3738270 Benign
48956 Q86VF7 (NRAP) A S 132 rs34700024 Benign
48957 Q86VF7 (NRAP) Q E 186 rs35049661 Benign
48958 Q86VF7 (NRAP) V A 208 rs2154028 Benign
48959 Q86VF7 (NRAP) Y C 249 rs2185913 Benign
48960 Q86VF7 (NRAP) A T 282 rs2275799 Benign
48961 Q86VF7 (NRAP) A T 344 rs3121478 Benign
48962 Q86VF7 (NRAP) Q R 360 rs3127106 Benign
48963 Q86VF7 (NRAP) D N 484 rs11196400 Benign
48964 Q86VF7 (NRAP) S L 490 rs3189030 Benign
48965 Q86VF7 (NRAP) N I 519 rs2270182 Benign
48966 Q86VF7 (NRAP) A S 647 rs2286734 Benign
48967 Q86VF7 (NRAP) A V 674 rs2286735 Benign
48968 Q86VF7 (NRAP) R C 884 rs868738 Benign
48969 Q86VF7 (NRAP) M V 1022 rs34523503 Benign
48970 Q86VF7 (NRAP) A V 1112 rs1539587 Benign
48971 Q86VF7 (NRAP) I V 1183 rs10749138 Benign
48972 Q86VF7 (NRAP) L P 1531 rs11196389 Benign
48973 Q86VF7 (NRAP) R C 1566 rs1885434 Benign
48974 Q86VF7 (NRAP) D N 1569 rs11575798 Benign
48975 Q86VF7 (NRAP) A S 1643 rs11575797 Benign
48976 Q86VH2 (KIF27) I V 213 rs12001918 Benign
48977 Q86VH2 (KIF27) R Q 300 rs35594736 Benign
48978 Q86VH2 (KIF27) N D 1036 rs55654273 Benign
48979 Q86VI1 (EXOC3L1) Q E 561 rs9939768 Benign
48980 Q86VI1 (EXOC3L1) S G 634 rs16957212 Benign
48981 Q86VI3 (IQGAP3) R G 391 rs2488269 Benign
48982 Q86VI3 (IQGAP3) V L 410 rs11264498 Benign
48983 Q86VI3 (IQGAP3) D N 645 rs11264496 Benign
48984 Q86VI3 (IQGAP3) R C 663 rs744224 Benign
48985 Q86VI3 (IQGAP3) H Y 770 rs1078890 Benign
48986 Q86VI3 (IQGAP3) Q H 1061 rs11804414 Benign
48987 Q86VI3 (IQGAP3) P S 1097 rs12562301 Benign
48988 Q86VL8 (SLC47A2) G R 429 rs34399035 Benign
48989 Q86VM9 (ZC3H18) A T 368 rs34808360 Benign
48990 Q86VM9 (ZC3H18) R H 440 rs17855686 Benign
48991 Q86VP1 (TAX1BP1) S N 58 rs7809260 Benign
48992 Q86VP1 (TAX1BP1) L I 307 rs11540483 Benign
48993 Q86VP3 (PACS2) T A 185 rs8010888 Benign
48994 Q86VP3 (PACS2) E K 209 rs1555408401 Disease: Epileptic encephalopat hy, early infantile, 66 (EIEE66) [MIM:618067]
48995 Q86VP3 (PACS2) L S 493 rs4076933 Benign
48996 Q86VP6 (CAND1) V A 803 rs12580996 Benign
48997 Q86VP6 (CAND1) A V 952 rs17854618 Benign
48998 Q86VQ0 (LCA5) L S 24 rs2655655 Benign
48999 Q86VQ0 (LCA5) D A 26 rs34068461 Benign
49000 Q86VQ0 (LCA5) R Q 66 rs35338066 Benign
49001 Q86VQ0 (LCA5) A P 546 rs35415141 Benign
49002 Q86VQ0 (LCA5) G D 656 rs1875845 Benign
49003 Q86VQ3 (TXNDC2) A P 225 rs11662946 Benign
49004 Q86VQ3 (TXNDC2) I L 314 rs2240909 Benign
49005 Q86VQ3 (TXNDC2) E K 341 rs11081510 Benign
49006 Q86VQ3 (TXNDC2) G D 357 rs2240906 Benign
49007 Q86VQ3 (TXNDC2) A T 461 rs17732496 Benign
49008 Q86VQ3 (TXNDC2) R T 487 rs17805544 Benign
49009 Q86VR7 (VSIG10L) N T 3 rs10414211 Benign
49010 Q86VR7 (VSIG10L) M I 356 rs7259266 Benign
49011 Q86VR7 (VSIG10L) R Q 592 rs34380065 Benign
49012 Q86VR7 (VSIG10L) R H 627 rs57710066 Benign
49013 Q86VR8 (FJX1) M L 153 rs12792700 Benign
49014 Q86VR8 (FJX1) R H 415 rs12286850 Benign
49015 Q86VS3 (IQCH) V L 932 rs3985641 Benign
49016 Q86VS8 (HOOK3) Y S 670 rs34131505 Benign
49017 Q86VV4 (RANBP3L) T R 70 rs1035480 Benign
49018 Q86VV4 (RANBP3L) A D 111 rs35433829 Benign
49019 Q86VV4 (RANBP3L) A V 271 rs16902872 Benign
49020 Q86VV8 (RTTN) C Y 27 rs201884120 Disease: Microcephaly , short stature, and polymicrogyr ia with or without seizures (MSSP) [MIM:614833]
49021 Q86VV8 (RTTN) S A 126 rs3911730 Benign
49022 Q86VV8 (RTTN) K R 245 rs17082206 Benign
49023 Q86VV8 (RTTN) L F 932 rs318240757 Disease: Microcephaly , short stature, and polymicrogyr ia with or without seizures (MSSP) [MIM:614833]
49024 Q86VV8 (RTTN) H R 1742 rs285227 Benign
49025 Q86VV8 (RTTN) F S 1761 rs4891392 Benign
49026 Q86VW0 (SESTD1) Y F 49 rs17854501 Benign
49027 Q86VW0 (SESTD1) V A 563 rs1047994 Benign
49028 Q86VW1 (SLC22A16) H R 49 rs714368 Benign
49029 Q86VW1 (SLC22A16) V A 252 rs723685 Benign
49030 Q86VW1 (SLC22A16) M T 409 rs12210538 Benign
49031 Q86VW1 (SLC22A16) V I 431 rs35948062 Benign
49032 Q86VW2 (ARHGEF25) C Y 253 rs17857333 Benign
49033 Q86VW2 (ARHGEF25) G R 397 rs17854492 Benign
49034 Q86VW2 (ARHGEF25) Q R 506 rs1564374 Benign
49035 Q86VY4 (TSPYL5) T S 120 rs2635164 Benign
49036 Q86VY4 (TSPYL5) I V 365 rs17854366 Benign
49037 Q86VZ4 (LRP11) P R 92 rs9322225 Benign
49038 Q86VZ4 (LRP11) T M 281 rs9478945 Benign
49039 Q86VZ4 (LRP11) R H 351 rs17854254 Benign
49040 Q86VZ4 (LRP11) G R 442 rs9478144 Benign
49041 Q86W10 (CYP4Z1) P L 393 rs28463559 Benign
49042 Q86W11 (ZSCAN30) Q P 238 rs2249769 Benign
49043 Q86W24 (NLRP14) E K 21 rs11041150 Benign
49044 Q86W24 (NLRP14) N T 48 rs12801277 Benign
49045 Q86W24 (NLRP14) R Q 55 rs61063081 Benign
49046 Q86W24 (NLRP14) D V 86 rs199735773 Benign
49047 Q86W24 (NLRP14) K R 92 rs16921697 Benign
49048 Q86W24 (NLRP14) S L 98 rs117823353 Benign
49049 Q86W24 (NLRP14) A T 375 rs368562565 Benign
49050 Q86W24 (NLRP14) T I 397 rs76670455 Benign
49051 Q86W24 (NLRP14) V M 441 rs147389856 Benign
49052 Q86W24 (NLRP14) L F 511 rs11041151 Benign
49053 Q86W24 (NLRP14) D G 522 rs1044378174 Benign
49054 Q86W24 (NLRP14) E K 808 rs10839708 Benign
49055 Q86W24 (NLRP14) S T 951 rs117124176 Benign
49056 Q86W24 (NLRP14) L S 954 rs117583918 Benign
49057 Q86W24 (NLRP14) L F 1010 rs17280682 Benign
49058 Q86W24 (NLRP14) M I 1019 rs115776642 Benign
49059 Q86W25 (NLRP13) Q R 247 rs303997 Benign
49060 Q86W25 (NLRP13) N S 781 rs17711239 Benign
49061 Q86W28 (NLRP8) P L 25 rs306507 Benign
49062 Q86W28 (NLRP8) V L 116 rs306506 Benign
49063 Q86W28 (NLRP8) A T 234 rs11880691 Benign
49064 Q86W28 (NLRP8) Q R 268 rs7259764 Benign
49065 Q86W28 (NLRP8) Q E 367 rs11880748 Benign
49066 Q86W28 (NLRP8) A V 543 rs41391053 Benign
49067 Q86W28 (NLRP8) R W 651 rs41481648 Benign
49068 Q86W28 (NLRP8) V A 782 rs306496 Benign
49069 Q86W28 (NLRP8) K R 937 rs306481 Benign
49070 Q86W34 (AMZ2) N D 30 rs3213690 Benign
49071 Q86W34 (AMZ2) H Q 146 rs3207194 Benign
49072 Q86W42 (THOC6) G R 46 rs587777030 Disease: Beaulieu- Boycott- Innes syndrome (BBIS) [MIM:613680]
49073 Q86W47 (KCNMB4) V I 199 - Benign
49074 Q86W50 (METTL16) S N 479 rs17834783 Benign
49075 Q86W67 (FAM228A) Y C 140 rs2288073 Benign
49076 Q86W92 (PPFIBP1) V L 148 rs2194816 Benign
49077 Q86WA9 (SLC26A11) Y C 122 rs765188926 Benign
49078 Q86WB0 (ZC3HC1) T A 271 rs1464890 Benign
49079 Q86WB0 (ZC3HC1) R H 363 rs11556924 Benign
49080 Q86WB7 (UNC93A) R K 6 rs36110805 Benign
49081 Q86WB7 (UNC93A) K Q 128 rs35313366 Benign
49082 Q86WB7 (UNC93A) V I 292 rs2072767 Benign
49083 Q86WB7 (UNC93A) V M 295 rs4708771 Benign
49084 Q86WB7 (UNC93A) V M 308 rs35854179 Benign
49085 Q86WB7 (UNC93A) Y H 387 rs663227 Benign
49086 Q86WB7 (UNC93A) M I 403 rs9459921 Benign
49087 Q86WB7 (UNC93A) M T 403 rs663606 Benign
49088 Q86WB7 (UNC93A) V I 409 rs7739897 Benign
49089 Q86WB7 (UNC93A) V A 445 rs752323292 Benign
49090 Q86WC4 (OSTM1) L F 52 rs9480830 Benign
49091 Q86WD7 (SERPINA9) A V 24 rs4905204 Benign
49092 Q86WD7 (SERPINA9) P L 218 rs17090921 Benign
49093 Q86WD7 (SERPINA9) H Q 236 rs28583900 Benign
49094 Q86WD7 (SERPINA9) R I 292 rs28618118 Benign
49095 Q86WD7 (SERPINA9) V A 330 rs11628722 Benign
49096 Q86WG3 (ATCAY) S R 301 - Disease: Cerebellar ataxia, cayman type (ATCAY) [MIM:601238]
49097 Q86WG5 (SBF2) P L 303 rs16907355 Benign
49098 Q86WG5 (SBF2) E K 679 rs7102464 Benign
49099 Q86WG5 (SBF2) Q E 1216 rs12574508 Benign
49100 Q86WH2 (RASSF3) R H 232 rs74098110 Benign
49101 Q86WI1 (PKHD1L1) W C 373 rs16879428 Benign
49102 Q86WI1 (PKHD1L1) Y H 440 rs964307 Benign
49103 Q86WI1 (PKHD1L1) H R 923 rs4735133 Benign
49104 Q86WI1 (PKHD1L1) Y H 943 rs16879534 Benign
49105 Q86WI1 (PKHD1L1) A E 957 rs35375999 Benign
49106 Q86WI1 (PKHD1L1) T A 1192 rs10093885 Benign
49107 Q86WI1 (PKHD1L1) R S 1514 rs1673408 Benign
49108 Q86WI1 (PKHD1L1) T R 1539 rs7820062 Benign
49109 Q86WI1 (PKHD1L1) V L 1965 rs1673407 Benign
49110 Q86WI1 (PKHD1L1) H Q 3050 rs1783147 Benign
49111 Q86WI1 (PKHD1L1) V I 3080 rs10441509 Benign
49112 Q86WI1 (PKHD1L1) I V 3411 rs16879659 Benign
49113 Q86WI1 (PKHD1L1) D E 3607 rs9774677 Benign
49114 Q86WI1 (PKHD1L1) L F 3862 rs16879693 Benign
49115 Q86WI1 (PKHD1L1) V I 4220 rs1783174 Benign
49116 Q86WI3 (NLRC5) S L 210 rs16965150 Benign
49117 Q86WI3 (NLRC5) P L 453 rs9938543 Benign
49118 Q86WI3 (NLRC5) C R 500 rs28438857 Benign
49119 Q86WI3 (NLRC5) S N 833 rs35534915 Benign
49120 Q86WI3 (NLRC5) N D 907 rs1672867 Benign
49121 Q86WI3 (NLRC5) Q K 1105 rs289723 Benign
49122 Q86WI3 (NLRC5) V A 1455 rs7190199 Benign
49123 Q86WI3 (NLRC5) Q R 1466 rs7185320 Benign
49124 Q86WJ1 (CHD1L) R P 25 rs11588753 Benign
49125 Q86WJ1 (CHD1L) H Q 350 rs17356233 Benign
49126 Q86WJ1 (CHD1L) E A 649 rs13374920 Benign
49127 Q86WJ1 (CHD1L) S C 743 rs2275249 Benign
49128 Q86WJ1 (CHD1L) S A 885 rs4950394 Benign
49129 Q86WK9 (PAQR7) V M 227 rs55948644 Benign
49130 Q86WK9 (PAQR7) G R 272 rs6689014 Benign
49131 Q86WN1 (FCHSD1) N K 344 rs3749760 Benign
49132 Q86WN1 (FCHSD1) P L 681 rs32957 Benign
49133 Q86WN2 (IFNE) Q H 46 rs1125488 Benign
49134 Q86WP2 (GPBP1) R G 122 rs1862171 Benign
49135 Q86WR7 (PROSER2) A V 412 rs12253554 Benign
49136 Q86WS4 (C12orf40) I L 13 rs58302581 Benign
49137 Q86WS5 (TMPRSS12) Y H 19 rs10876100 Benign
49138 Q86WS5 (TMPRSS12) E K 62 rs829121 Benign
49139 Q86WS5 (TMPRSS12) A T 127 rs861204 Benign
49140 Q86WT1 (TTC30A) V I 446 rs28630685 Benign
49141 Q86WT1 (TTC30A) K R 577 rs17854236 Benign
49142 Q86WT6 (TRIM69) D N 12 rs2444007 Benign
49143 Q86WT6 (TRIM69) D N 15 rs2470911 Benign
49144 Q86WT6 (TRIM69) V A 31 rs3759880 Benign
49145 Q86WT6 (TRIM69) K R 104 rs17588988 Benign
49146 Q86WT6 (TRIM69) T M 161 rs3100139 Benign
49147 Q86WT6 (TRIM69) A V 190 rs3759880 Benign
49148 Q86WU2 (LDHD) R K 233 rs11644820 Benign
49149 Q86WU2 (LDHD) W C 374 - Disease: D-lactic aciduria (DLACD) [MIM:245450]
49150 Q86WU2 (LDHD) T M 463 rs764877688 Disease: D-lactic aciduria (DLACD) [MIM:245450]
49151 Q86WV1 (SKAP1) G S 161 rs2278868 Benign
49152 Q86WV1 (SKAP1) S G 242 rs35288886 Benign
49153 Q86WV6 (STING1) R H 71 rs11554776 Benign
49154 Q86WV6 (STING1) V L 147 rs587777611 Disease: STING- associated vasculopathy , infantile- onset (SAVI) [MIM:615934]
49155 Q86WV6 (STING1) N S 154 rs587777609 Disease: STING- associated vasculopathy , infantile- onset (SAVI) [MIM:615934]
49156 Q86WV6 (STING1) V M 155 rs587777610 Disease: STING- associated vasculopathy , infantile- onset (SAVI) [MIM:615934]
49157 Q86WV6 (STING1) H R 232 rs1131769 Benign
49158 Q86WV6 (STING1) R S 284 - Disease: -
49159 Q86WV6 (STING1) R Q 293 rs7380824 Benign
49160 Q86WW8 (COA5) A P 53 rs387907099 Disease: Cardioenceph alomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (CEMCOX3) [MIM:616500]
49161 Q86WX3 (RPS19BP1) E A 124 rs17001278 Benign
49162 Q86WZ0 (HEATR4) L H 634 rs12894435 Benign
49163 Q86WZ0 (HEATR4) W G 643 rs12894425 Benign
49164 Q86WZ0 (HEATR4) V A 660 rs12894400 Benign
49165 Q86X02 (CDR2L) D E 300 rs36057512 Benign
49166 Q86X19 (TMEM17) G S 26 rs17854454 Benign
49167 Q86X24 (HORMAD1) T I 267 rs1336900 Benign
49168 Q86X27 (RALGPS2) N S 225 rs35161510 Benign
49169 Q86X29 (LSR) S N 363 rs34259399 Benign
49170 Q86X40 (LRRC28) R H 168 rs11857384 Benign
49171 Q86X45 (LRRC6) A P 74 rs397514596 Disease: Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]
49172 Q86X45 (LRRC6) D H 146 rs200321595 Disease: Ciliary dyskinesia, primary, 19 (CILD19) [MIM:614935]
49173 Q86X45 (LRRC6) T I 232 rs2293979 Benign
49174 Q86X45 (LRRC6) I T 466 rs9297853 Benign
49175 Q86X51 (EZHIP) R K 470 rs1875755 Benign
49176 Q86X52 (CHSY1) P S 359 rs3743193 Benign
49177 Q86X52 (CHSY1) P R 539 rs387906985 Disease: Temtamy preaxial brachydactyl y syndrome (TPBS) [MIM:605282]
49178 Q86X52 (CHSY1) Q H 652 rs4426333 Benign
49179 Q86X53 (ERICH1) R S 403 rs1703879 Benign
49180 Q86X59 (LINC02875) L P 186 rs9907379 Benign
49181 Q86X60 (FAM72B) G V 82 rs17838150 Benign
49182 Q86X60 (FAM72B) P L 94 rs1572701 Benign
49183 Q86X67 (NUDT13) G D 81 rs34284214 Benign
49184 Q86X67 (NUDT13) M V 273 rs17658872 Benign
49185 Q86X83 (COMMD2) I L 113 rs9843784 Benign
49186 Q86X83 (COMMD2) Q H 177 rs1546732 Benign
49187 Q86XA0 (METTL23) L V 141 rs12602772 Benign
49188 Q86XD5 (FAM131B) A T 307 rs17854363 Benign
49189 Q86XD8 (ZFAND4) K T 118 rs17854567 Benign
49190 Q86XD8 (ZFAND4) H Y 358 rs12267385 Benign
49191 Q86XD8 (ZFAND4) T A 523 rs34082391 Benign
49192 Q86XE0 (SNX32) H N 155 rs17854065 Benign
49193 Q86XE0 (SNX32) A V 282 rs17855647 Benign
49194 Q86XE0 (SNX32) S Y 354 rs17857243 Benign
49195 Q86XE5 (HOGA1) C G 257 rs267606764 Disease: Hyperoxaluri a primary 3 (HP3) [MIM:613616]
49196 Q86XE5 (HOGA1) G V 287 rs138207257 Disease: Hyperoxaluri a primary 3 (HP3) [MIM:613616]
49197 Q86XF0 (DHFR2) V I 166 rs17855824 Benign
49198 Q86XH1 (IQCA1) K M 8 rs35114730 Benign
49199 Q86XH1 (IQCA1) Q R 362 rs3754644 Benign
49200 Q86XH1 (IQCA1) K R 452 rs10204742 Benign
49201 Q86XI2 (NCAPG2) K E 609 rs1299537743 Disease: Khan-Khan- Katsanis syndrome (3KS) [MIM:618460]
49202 Q86XI2 (NCAPG2) T M 693 rs772209292 Disease: Khan-Khan- Katsanis syndrome (3KS) [MIM:618460]
49203 Q86XI2 (NCAPG2) T M 794 rs10248318 Benign
49204 Q86XI2 (NCAPG2) T P 850 rs1563515856 Disease: Khan-Khan- Katsanis syndrome (3KS) [MIM:618460]
49205 Q86XI2 (NCAPG2) E D 867 rs3214000 Benign
49206 Q86XI6 (PPP1R3B) G E 48 rs3748140 Benign
49207 Q86XJ1 (GAS2L3) L S 461 rs11834625 Benign
49208 Q86XJ1 (GAS2L3) P T 500 rs17030365 Benign
49209 Q86XK2 (FBXO11) T S 126 rs17036993 Benign
49210 Q86XK2 (FBXO11) R S 138 rs1553342109 Disease: Intellectual developmenta l disorder with dysmorphic facies and behavioral abnormalitie s (IDDFBA) [MIM:618089]
49211 Q86XK2 (FBXO11) Q R 156 - Disease: Intellectual developmenta l disorder with dysmorphic facies and behavioral abnormalitie s (IDDFBA) [MIM:618089]
49212 Q86XK2 (FBXO11) I V 538 rs1553338592 Disease: Intellectual developmenta l disorder with dysmorphic facies and behavioral abnormalitie s (IDDFBA) [MIM:618089]
49213 Q86XK2 (FBXO11) T R 623 - Disease: Intellectual developmenta l disorder with dysmorphic facies and behavioral abnormalitie s (IDDFBA) [MIM:618089]
49214 Q86XK2 (FBXO11) S P 840 rs1553335247 Disease: Intellectual developmenta l disorder with dysmorphic facies and behavioral abnormalitie s (IDDFBA) [MIM:618089]
49215 Q86XK2 (FBXO11) A D 892 - Disease: Intellectual developmenta l disorder with dysmorphic facies and behavioral abnormalitie s (IDDFBA) [MIM:618089]
49216 Q86XK2 (FBXO11) P R 905 - Disease: Intellectual developmenta l disorder with dysmorphic facies and behavioral abnormalitie s (IDDFBA) [MIM:618089]
49217 Q86XK2 (FBXO11) D G 910 - Disease: Intellectual developmenta l disorder with dysmorphic facies and behavioral abnormalitie s (IDDFBA) [MIM:618089]
49218 Q86XK3 (SFR1) D G 19 rs10786783 Benign
49219 Q86XK7 (VSIG1) V I 147 rs17254305 Benign
49220 Q86XL3 (ANKLE2) A P 109 - Disease: Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681]
49221 Q86XL3 (ANKLE2) H Y 122 rs1132375 Benign
49222 Q86XL3 (ANKLE2) Q E 148 rs7968520 Benign
49223 Q86XL3 (ANKLE2) G W 201 - Disease: Microcephaly 16, primary, autosomal recessive (MCPH16) [MIM:616681]
49224 Q86XL3 (ANKLE2) R H 720 rs10781634 Benign
49225 Q86XM0 (CATSPERD) M T 212 rs57680462 Benign
49226 Q86XM0 (CATSPERD) T A 504 rs17854252 Benign
49227 Q86XM0 (CATSPERD) T S 743 rs2305925 Benign
49228 Q86XN6 (ZNF761) I S 122 rs2708743 Benign
49229 Q86XN6 (ZNF761) V I 168 rs1984432 Benign
49230 Q86XN6 (ZNF761) G S 528 rs2708742 Benign
49231 Q86XN6 (ZNF761) E Q 603 rs2617726 Benign
49232 Q86XN6 (ZNF761) I V 678 rs139713552 Benign
49233 Q86XN7 (PROSER1) V A 571 rs3751379 Benign
49234 Q86XN7 (PROSER1) S T 847 rs17058955 Benign
49235 Q86XP0 (PLA2G4D) P R 275 rs11635685 Benign
49236 Q86XP0 (PLA2G4D) S T 434 rs4924618 Benign
49237 Q86XP0 (PLA2G4D) R W 573 rs17747505 Benign
49238 Q86XP0 (PLA2G4D) A G 649 rs17690899 Benign
49239 Q86XP0 (PLA2G4D) R G 747 rs2459692 Benign
49240 Q86XP0 (PLA2G4D) R Q 783 rs750052 Benign
49241 Q86XP0 (PLA2G4D) R Q 807 rs750051 Benign
49242 Q86XP1 (DGKH) V A 1201 rs17646069 Benign
49243 Q86XP6 (GKN2) S N 113 rs1128272 Benign
49244 Q86XQ3 (CATSPER3) N K 204 rs3896260 Benign
49245 Q86XR2 (NIBAN3) I T 229 rs8107859 Benign
49246 Q86XR2 (NIBAN3) T M 493 rs45532635 Benign
49247 Q86XR2 (NIBAN3) L F 543 rs10401716 Benign
49248 Q86XR2 (NIBAN3) G S 603 rs11666267 Benign
49249 Q86XR8 (CEP57) R G 448 rs644799 Benign
49250 Q86XS5 (ANGPTL5) S P 175 rs7946238 Benign
49251 Q86XT4 (TRIM50) L P 8 rs6980124 Benign
49252 Q86XU0 (ZNF677) D N 56 rs11881131 Benign
49253 Q86XU0 (ZNF677) G E 254 rs10425706 Benign
49254 Q86XX4 (FRAS1) D G 32 rs4859905 Benign
49255 Q86XX4 (FRAS1) D H 54 rs17003071 Benign
49256 Q86XX4 (FRAS1) P S 209 rs7699637 Benign
49257 Q86XX4 (FRAS1) Y H 228 rs7682296 Benign
49258 Q86XX4 (FRAS1) I V 243 rs6848030 Benign
49259 Q86XX4 (FRAS1) S Y 429 rs6838959 Benign
49260 Q86XX4 (FRAS1) L I 466 rs12504081 Benign
49261 Q86XX4 (FRAS1) M T 590 rs35030041 Benign
49262 Q86XX4 (FRAS1) D G 687 rs345513 Benign
49263 Q86XX4 (FRAS1) I L 710 rs345512 Benign
49264 Q86XX4 (FRAS1) A V 817 rs6835769 Benign
49265 Q86XX4 (FRAS1) T M 954 rs17003166 Benign
49266 Q86XX4 (FRAS1) G E 1023 rs17459809 Benign
49267 Q86XX4 (FRAS1) E K 1136 rs12512164 Benign
49268 Q86XX4 (FRAS1) A V 1626 rs17003213 Benign
49269 Q86XX4 (FRAS1) D N 2545 rs4388111 Benign
49270 Q86Y07 (VRK2) N D 50 rs34130684 Benign
49271 Q86Y07 (VRK2) I M 157 rs35966666 Benign
49272 Q86Y07 (VRK2) I V 167 rs1051061 Benign
49273 Q86Y07 (VRK2) N S 211 rs36081172 Benign
49274 Q86Y22 (COL23A1) T A 287 rs890802 Benign
49275 Q86Y25 (ZNF354C) E K 250 rs17855823 Benign
49276 Q86Y25 (ZNF354C) F L 546 rs1445846 Benign
49277 Q86Y25 (ZNF354C) E K 553 rs1445845 Benign
49278 Q86Y26 (NUTM1) P L 22 rs374230 Benign
49279 Q86Y26 (NUTM1) T M 781 rs16959028 Benign
49280 Q86Y26 (NUTM1) V E 785 rs17236868 Benign
49281 Q86Y26 (NUTM1) T N 973 rs2279683 Benign
49282 Q86Y26 (NUTM1) P R 985 rs2279684 Benign
49283 Q86Y26 (NUTM1) R H 1113 rs2279685 Benign
49284 Q86Y29 (BAGE3) R T 95 rs2740327 Benign
49285 Q86Y29 (BAGE3) Q R 106 rs9808647 Benign
49286 Q86Y30 (BAGE2) R T 95 rs2740327 Benign
49287 Q86Y30 (BAGE2) R Q 106 rs9808647 Benign
49288 Q86Y33 (CDC20B) T P 8 rs173042 Benign
49289 Q86Y33 (CDC20B) E K 17 rs423074 Benign
49290 Q86Y33 (CDC20B) T S 97 rs34132993 Benign
49291 Q86Y33 (CDC20B) R C 121 rs1021580 Benign
49292 Q86Y33 (CDC20B) S A 496 rs3104230 Benign
49293 Q86Y33 (CDC20B) R W 503 rs444527 Benign
49294 Q86Y34 (ADGRG3) A T 430 rs2290178 Benign
49295 Q86Y38 (XYLT1) A S 115 rs61758388 Disease: Pseudoxantho ma elasticum (PXE) [MIM:264800]
49296 Q86Y38 (XYLT1) P R 325 rs28709752 Benign
49297 Q86Y38 (XYLT1) R W 406 rs201009902 Benign
49298 Q86Y38 (XYLT1) R W 481 rs587777366 Disease: Desbuquois dysplasia 2 (DBQD2) [MIM:615777]
49299 Q86Y38 (XYLT1) R C 598 rs587777367 Disease: Desbuquois dysplasia 2 (DBQD2) [MIM:615777]
49300 Q86Y38 (XYLT1) T M 665 rs79030430 Benign
49301 Q86Y38 (XYLT1) P A 766 rs12325439 Benign
49302 Q86Y38 (XYLT1) V I 839 rs7200466 Benign
49303 Q86Y38 (XYLT1) R Q 892 rs35309694 Benign
49304 Q86Y46 (KRT73) V M 61 rs35417182 Benign
49305 Q86Y46 (KRT73) P L 96 rs659436 Benign
49306 Q86Y46 (KRT73) E G 365 rs607426 Benign
49307 Q86Y56 (DNAAF5) R C 560 rs73258248 Benign
49308 Q86Y56 (DNAAF5) V A 632 rs4720951 Benign
49309 Q86Y56 (DNAAF5) R K 743 rs3922641 Benign
49310 Q86Y56 (DNAAF5) L P 795 rs397514561 Disease: Ciliary dyskinesia, primary, 18 (CILD18) [MIM:614874]
49311 Q86Y91 (KIF18B) Q R 506 rs17546822 Benign
49312 Q86YA3 (ZGRF1) N S 410 rs7696816 Benign
49313 Q86YA3 (ZGRF1) G E 451 rs17854334 Benign
49314 Q86YA3 (ZGRF1) T I 978 rs17669218 Benign
49315 Q86YA3 (ZGRF1) I T 1410 rs3828539 Benign
49316 Q86YA3 (ZGRF1) S L 1568 rs17605622 Benign
49317 Q86YA3 (ZGRF1) S C 1696 rs3762891 Benign
49318 Q86YB7 (ECHDC2) N D 119 rs17854314 Benign
49319 Q86YB8 (ERO1B) D V 129 rs2477599 Benign
49320 Q86YB8 (ERO1B) H Q 465 rs1055851 Benign
49321 Q86YC2 (PALB2) K R 18 rs138789658 Benign
49322 Q86YC2 (PALB2) Y C 28 rs515726129 Benign
49323 Q86YC2 (PALB2) L P 35 rs141047069 Disease: Breast cancer (BC) [MIM:114480]
49324 Q86YC2 (PALB2) R H 37 rs202194596 Benign
49325 Q86YC2 (PALB2) H Y 46 - Benign
49326 Q86YC2 (PALB2) D G 219 rs45594034 Benign
49327 Q86YC2 (PALB2) I V 309 rs3809683 Benign
49328 Q86YC2 (PALB2) Y C 334 rs200620434 Benign
49329 Q86YC2 (PALB2) L S 337 rs45494092 Benign
49330 Q86YC2 (PALB2) R Q 414 rs749461008 Benign
49331 Q86YC2 (PALB2) V M 425 rs576081828 Benign
49332 Q86YC2 (PALB2) A T 491 rs577969558 Benign
49333 Q86YC2 (PALB2) K R 515 rs515726072 Benign
49334 Q86YC2 (PALB2) Q R 559 rs152451 Benign
49335 Q86YC2 (PALB2) E Q 672 rs45532440 Benign
49336 Q86YC2 (PALB2) A V 712 rs141458731 Benign
49337 Q86YC2 (PALB2) F L 728 - Benign
49338 Q86YC2 (PALB2) P S 864 rs45568339 Benign
49339 Q86YC2 (PALB2) V A 917 rs763645981 Benign
49340 Q86YC2 (PALB2) V M 932 rs45624036 Benign
49341 Q86YC2 (PALB2) L W 939 rs45478192 Benign
49342 Q86YC2 (PALB2) I V 966 rs786204248 Benign
49343 Q86YC2 (PALB2) G E 998 rs45551636 Benign
49344 Q86YC2 (PALB2) A T 1025 rs746872839 Benign
49345 Q86YC2 (PALB2) G A 1043 rs377713277 Benign
49346 Q86YC2 (PALB2) S G 1075 - Benign
49347 Q86YC2 (PALB2) V A 1105 - Benign
49348 Q86YC2 (PALB2) Q H 1114 - Benign
49349 Q86YC2 (PALB2) L P 1143 rs62625284 Benign
49350 Q86YC2 (PALB2) H Y 1170 rs200283306 Benign
49351 Q86YD3 (TMEM25) W C 25 rs35915434 Benign
49352 Q86YD3 (TMEM25) Q R 342 rs12289253 Benign
49353 Q86YD7 (FAM90A1) R G 123 rs9738115 Benign
49354 Q86YD7 (FAM90A1) A E 234 rs9668582 Benign
49355 Q86YD7 (FAM90A1) P L 334 rs17855656 Benign
49356 Q86YD7 (FAM90A1) R S 343 rs9668475 Benign
49357 Q86YD7 (FAM90A1) T I 348 rs9668474 Benign
49358 Q86YD7 (FAM90A1) T A 410 rs11044098 Benign
49359 Q86YE8 (ZNF573) G A 186 rs3752365 Benign
49360 Q86YE8 (ZNF573) G A 224 rs3752365 Benign
49361 Q86YF9 (DZIP1) T M 172 rs9561921 Benign
49362 Q86YF9 (DZIP1) M L 664 rs34303958 Benign
49363 Q86YF9 (DZIP1) P S 736 rs11070136 Benign
49364 Q86YH2 (ZNF280B) E A 256 rs2236729 Benign
49365 Q86YH2 (ZNF280B) V G 522 rs12484816 Benign
49366 Q86YH6 (PDSS2) F L 3 rs3734675 Benign
49367 Q86YH6 (PDSS2) S L 382 rs118203956 Disease: Coenzyme Q10 deficiency, primary, 3 (COQ10D3) [MIM:614652]
49368 Q86YI8 (PHF13) K E 20 rs17853850 Benign
49369 Q86YJ5 (MARCHF9) Q H 257 rs17856312 Benign
49370 Q86YJ5 (MARCHF9) T P 307 rs17850517 Benign
49371 Q86YJ6 (THNSL2) G E 41 rs4129190 Benign
49372 Q86YJ6 (THNSL2) V I 108 rs35541720 Benign
49373 Q86YJ6 (THNSL2) T N 204 rs34136143 Benign
49374 Q86YJ6 (THNSL2) R G 324 rs17855905 Benign
49375 Q86YL7 (PDPN) A G 105 rs2486188 Benign
49376 Q86YL7 (PDPN) A G 147 rs2486188 Benign
49377 Q86YN6 (PPARGC1B) A P 203 rs7732671 Benign
49378 Q86YN6 (PPARGC1B) R Q 265 rs45520937 Benign
49379 Q86YN6 (PPARGC1B) V I 279 rs17572019 Benign
49380 Q86YN6 (PPARGC1B) R S 292 rs11959820 Benign
49381 Q86YP4 (GATAD2A) R Q 17 rs10426883 Benign
49382 Q86YP4 (GATAD2A) N S 296 rs2288851 Benign
49383 Q86YR6 (POTED) G S 113 rs6517869 Benign
49384 Q86YR6 (POTED) I V 135 rs6517870 Benign
49385 Q86YR6 (POTED) E Q 172 rs1429512928 Benign
49386 Q86YR7 (MCF2L2) T M 159 rs12632177 Benign
49387 Q86YR7 (MCF2L2) N S 277 rs13082605 Benign
49388 Q86YR7 (MCF2L2) I L 359 rs7639705 Benign
49389 Q86YR7 (MCF2L2) Q L 378 rs2293203 Benign
49390 Q86YR7 (MCF2L2) F S 589 rs3732602 Benign
49391 Q86YR7 (MCF2L2) F L 772 rs9826325 Benign
49392 Q86YR7 (MCF2L2) T A 902 rs6804951 Benign
49393 Q86YR7 (MCF2L2) M T 1015 rs35070271 Benign
49394 Q86YT5 (SLC13A5) T M 142 rs761917087 Disease: Epileptic encephalopat hy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
49395 Q86YT5 (SLC13A5) G R 219 rs144332569 Disease: Epileptic encephalopat hy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
49396 Q86YT5 (SLC13A5) T M 227 rs587777577 Disease: Epileptic encephalopat hy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
49397 Q86YT5 (SLC13A5) S L 427 rs548065551 Disease: Epileptic encephalopat hy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
49398 Q86YT5 (SLC13A5) L P 488 rs587777578 Disease: Epileptic encephalopat hy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
49399 Q86YT5 (SLC13A5) D H 524 rs863225448 Disease: Epileptic encephalopat hy, early infantile, 25, with amelogenesis imperfecta (EIEE25) [MIM:615905]
49400 Q86YT6 (MIB1) R H 174 rs755375969 Benign
49401 Q86YT6 (MIB1) V F 943 rs200035428 Disease: Left ventricular non- compaction 7 (LVNC7) [MIM:615092]
49402 Q86YT9 (JAML) I N 94 rs17121881 Benign
49403 Q86YT9 (JAML) V A 193 rs1793174 Benign
49404 Q86YT9 (JAML) I M 322 rs2298831 Benign
49405 Q86YV0 (RASAL3) L V 251 rs58123634 Benign
49406 Q86YV0 (RASAL3) R C 594 rs56209154 Benign
49407 Q86YV0 (RASAL3) P T 825 rs57208996 Benign
49408 Q86YV5 (PRAG1) L I 122 rs55764617 Benign
49409 Q86YV5 (PRAG1) R G 137 rs56290960 Benign
49410 Q86YV5 (PRAG1) V I 139 rs34346032 Benign
49411 Q86YV5 (PRAG1) R Q 404 rs3896980 Benign
49412 Q86YV5 (PRAG1) P L 569 rs4840955 Benign
49413 Q86YV5 (PRAG1) S C 578 rs4840953 Benign
49414 Q86YV5 (PRAG1) P A 595 rs55994745 Benign
49415 Q86YV5 (PRAG1) P T 662 rs56351643 Benign
49416 Q86YV5 (PRAG1) P L 814 rs56207906 Benign
49417 Q86YV5 (PRAG1) H R 851 rs56215812 Benign
49418 Q86YV5 (PRAG1) S L 1003 rs56289289 Benign
49419 Q86YV5 (PRAG1) V M 1041 rs28533138 Benign
49420 Q86YV5 (PRAG1) A T 1113 rs12549973 Benign
49421 Q86YV5 (PRAG1) R H 1315 rs1314830862 Benign
49422 Q86YV6 (MYLK4) E A 39 rs7770402 Benign
49423 Q86YV6 (MYLK4) G R 50 rs2296356 Benign
49424 Q86YV6 (MYLK4) T M 126 rs34953021 Benign
49425 Q86YV6 (MYLK4) C Y 318 rs35609073 Benign
49426 Q86YV6 (MYLK4) Q R 373 rs35211631 Benign
49427 Q86YW0 (PLCZ1) I F 489 rs757326350 Disease: Spermatogeni c failure 17 (SPGF17) [MIM:617214]
49428 Q86YW0 (PLCZ1) S L 500 rs10505830 Benign
49429 Q86YW5 (TREML1) H P 231 rs34254490 Benign
49430 Q86YW9 (MED12L) Q P 401 rs17290219 Benign
49431 Q86YW9 (MED12L) E K 464 rs3108728 Benign
49432 Q86YW9 (MED12L) Q H 903 rs2131100 Benign
49433 Q86YW9 (MED12L) R Q 1210 rs3732765 Benign
49434 Q86YW9 (MED12L) R Q 1698 rs2276761 Benign
49435 Q86YZ3 (HRNR) R H 85 rs11204937 Benign
49436 Q86YZ3 (HRNR) R W 122 rs57277761 Benign
49437 Q86YZ3 (HRNR) G D 167 rs12741518 Benign
49438 Q86YZ3 (HRNR) H Q 273 rs7545406 Benign
49439 Q86YZ3 (HRNR) Q R 376 rs6587649 Benign
49440 Q86YZ3 (HRNR) G D 427 rs6666097 Benign
49441 Q86YZ3 (HRNR) E G 473 rs6587648 Benign
49442 Q86YZ3 (HRNR) G R 492 rs6587647 Benign
49443 Q86YZ3 (HRNR) Y C 517 rs41266134 Benign
49444 Q86YZ3 (HRNR) R Q 664 rs7520249 Benign
49445 Q86YZ3 (HRNR) S T 799 rs6662450 Benign
49446 Q86YZ3 (HRNR) S G 2435 rs78949172 Benign
49447 Q86YZ3 (HRNR) G S 2461 rs6659183 Benign
49448 Q86Z02 (HIPK1) Q R 6 rs35324789 Benign
49449 Q86Z02 (HIPK1) G C 310 rs34335651 Benign
49450 Q86Z02 (HIPK1) L V 1165 - Benign
49451 Q86Z14 (KLB) P A 65 rs34905034 Benign
49452 Q86Z14 (KLB) R Q 728 rs17618244 Benign
49453 Q86Z14 (KLB) A V 747 rs35372803 Benign
49454 Q86Z14 (KLB) Y H 906 rs17618262 Benign
49455 Q86Z14 (KLB) Q K 1020 rs4975017 Benign
49456 Q86Z20 (CCDC125) V M 13 rs10471774 Benign
49457 Q8HWS3 (RFX6) E K 6 rs17853900 Benign
49458 Q8HWS3 (RFX6) A E 17 rs9489056 Benign
49459 Q8HWS3 (RFX6) R Q 181 rs267607013 Disease: Mitchell- Riley syndrome (MTCHRS) [MIM:615710]
49460 Q8HWS3 (RFX6) S P 217 rs267607012 Disease: Mitchell- Riley syndrome (MTCHRS) [MIM:615710]
49461 Q8HWS3 (RFX6) V G 506 - Disease: Mitchell- Riley syndrome (MTCHRS) [MIM:615710]
49462 Q8HWS3 (RFX6) T A 688 rs17857184 Benign
49463 Q8HWS3 (RFX6) S N 743 rs582803 Benign
49464 Q8IU54 (IFNL1) N D 188 rs30461 Benign
49465 Q8IU60 (DCP2) L F 16 rs33555 Benign
49466 Q8IU68 (TMC8) N I 306 rs7208422 Benign
49467 Q8IU68 (TMC8) V I 501 rs11651675 Benign
49468 Q8IU80 (TMPRSS6) E K 114 rs199474803 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49469 Q8IU80 (TMPRSS6) A D 118 rs267607121 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49470 Q8IU80 (TMPRSS6) Y C 141 rs1430692214 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49471 Q8IU80 (TMPRSS6) I T 212 rs776877803 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49472 Q8IU80 (TMPRSS6) G D 228 rs754848810 Benign
49473 Q8IU80 (TMPRSS6) L P 235 rs199474802 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49474 Q8IU80 (TMPRSS6) W C 247 - Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49475 Q8IU80 (TMPRSS6) K E 253 rs2235324 Benign
49476 Q8IU80 (TMPRSS6) E K 262 rs2235324 Benign
49477 Q8IU80 (TMPRSS6) R Q 271 rs776180387 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49478 Q8IU80 (TMPRSS6) T N 287 rs1449962575 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49479 Q8IU80 (TMPRSS6) S L 288 rs5995378 Benign
49480 Q8IU80 (TMPRSS6) S L 304 rs1373272804 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49481 Q8IU80 (TMPRSS6) C F 335 - Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49482 Q8IU80 (TMPRSS6) Y C 418 rs199474804 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49483 Q8IU80 (TMPRSS6) G R 442 rs137853119 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49484 Q8IU80 (TMPRSS6) R W 446 rs117576908 Benign
49485 Q8IU80 (TMPRSS6) C R 510 - Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49486 Q8IU80 (TMPRSS6) C S 510 - Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49487 Q8IU80 (TMPRSS6) D G 521 - Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49488 Q8IU80 (TMPRSS6) D N 521 rs137853120 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49489 Q8IU80 (TMPRSS6) E K 522 rs387907018 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49490 Q8IU80 (TMPRSS6) W R 590 rs770897887 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49491 Q8IU80 (TMPRSS6) R W 597 rs773272073 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49492 Q8IU80 (TMPRSS6) G R 603 rs769083817 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49493 Q8IU80 (TMPRSS6) A G 605 - Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49494 Q8IU80 (TMPRSS6) L R 606 - Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49495 Q8IU80 (TMPRSS6) S T 623 - Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49496 Q8IU80 (TMPRSS6) L F 674 - Benign
49497 Q8IU80 (TMPRSS6) V A 736 rs855791 Benign
49498 Q8IU80 (TMPRSS6) G D 763 rs11703011 Benign
49499 Q8IU80 (TMPRSS6) P A 765 rs199474805 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49500 Q8IU80 (TMPRSS6) R C 774 rs776069764 Disease: Iron- refractory iron deficiency anemia (IRIDA) [MIM:206200]
49501 Q8IU80 (TMPRSS6) V I 795 rs139105452 Benign
49502 Q8IU81 (IRF2BP1) M I 24 rs11550349 Benign
49503 Q8IU85 (CAMK1D) I M 66 rs34194224 Benign
49504 Q8IU89 (CERS3) Y C 45 rs60405735 Benign
49505 Q8IU89 (CERS3) D G 342 rs1023783 Benign
49506 Q8IU89 (CERS3) R G 370 rs2439928 Benign
49507 Q8IU99 (CALHM1) L P 86 rs2986017 Benign
49508 Q8IUA0 (WFDC8) M T 96 rs2272955 Benign
49509 Q8IUA0 (WFDC8) N S 137 rs2250860 Benign
49510 Q8IUA7 (ABCA9) R H 353 rs1860447 Benign
49511 Q8IUA7 (ABCA9) N S 785 rs17684521 Benign
49512 Q8IUA7 (ABCA9) K T 1306 rs2302294 Benign
49513 Q8IUA7 (ABCA9) G S 1356 rs9916254 Benign
49514 Q8IUB2 (WFDC3) H D 36 rs6032538 Benign
49515 Q8IUB2 (WFDC3) G S 198 rs6073907 Benign
49516 Q8IUB3 (WFDC10B) L P 8 rs232729 Benign
49517 Q8IUC1 (KRTAP11-1) C S 111 rs9636845 Benign
49518 Q8IUC4 (RHPN2) R Q 70 rs28626308 Benign
49519 Q8IUC4 (RHPN2) A P 342 rs28407794 Benign
49520 Q8IUC6 (TICAM1) R C 75 rs11466719 Benign
49521 Q8IUC6 (TICAM1) S L 186 rs146550489 Disease: Encephalopat hy, acute, infection- induced, Herpes- specific, 6 (IIAE6) [MIM:614850]
49522 Q8IUC6 (TICAM1) L V 275 rs11466721 Benign
49523 Q8IUC6 (TICAM1) A T 666 rs11466724 Benign
49524 Q8IUC8 (GALNT13) E D 59 rs34086479 Benign
49525 Q8IUD2 (ERC1) S G 50 rs35037408 Benign
49526 Q8IUD2 (ERC1) T A 1032 rs12319376 Benign
49527 Q8IUD6 (RNF135) H Q 71 rs7225888 Benign
49528 Q8IUD6 (RNF135) S P 108 rs7211440 Benign
49529 Q8IUD6 (RNF135) R K 115 rs111902263 Benign
49530 Q8IUD6 (RNF135) W C 415 rs61749868 Benign
49531 Q8IUE1 (TGIF2LX) V I 197 rs2290380 Benign
49532 Q8IUF8 (RIOX2) A P 17 rs35391656 Benign
49533 Q8IUF8 (RIOX2) P L 201 rs56183666 Benign
49534 Q8IUF8 (RIOX2) A T 386 rs2172257 Benign
49535 Q8IUG1 (KRTAP1-3) C S 34 rs62624960 Benign
49536 Q8IUG1 (KRTAP1-3) G R 92 - Benign
49537 Q8IUG5 (MYO18B) G E 44 rs133885 Benign
49538 Q8IUG5 (MYO18B) P L 177 rs13058434 Benign
49539 Q8IUG5 (MYO18B) W C 547 rs3859866 Benign
49540 Q8IUG5 (MYO18B) W R 661 rs5761170 Benign
49541 Q8IUG5 (MYO18B) S L 925 rs9624909 Benign
49542 Q8IUG5 (MYO18B) W S 1037 rs17704912 Benign
49543 Q8IUG5 (MYO18B) H Q 1119 rs5761268 Benign
49544 Q8IUG5 (MYO18B) S F 1390 rs35578357 Benign
49545 Q8IUG5 (MYO18B) I V 1399 rs695633 Benign
49546 Q8IUG5 (MYO18B) S T 1444 rs33928909 Benign
49547 Q8IUG5 (MYO18B) A D 2294 rs35370367 Benign
49548 Q8IUG5 (MYO18B) Q R 2347 rs2236005 Benign
49549 Q8IUG5 (MYO18B) G A 2395 rs6004901 Benign
49550 Q8IUG5 (MYO18B) G S 2513 rs7284177 Benign
49551 Q8IUG5 (MYO18B) R Q 2532 rs34875296 Benign
49552 Q8IUH2 (CREG2) P Q 96 rs11554173 Benign
49553 Q8IUH4 (ZDHHC13) K R 99 rs2271001 Benign
49554 Q8IUH4 (ZDHHC13) Y C 392 rs12798330 Benign
49555 Q8IUH5 (ZDHHC17) N S 383 rs33996476 Benign
49556 Q8IUH8 (SPPL2C) R Q 123 rs17763658 Benign
49557 Q8IUH8 (SPPL2C) R H 303 rs242944 Benign
49558 Q8IUH8 (SPPL2C) R P 461 rs12185233 Benign
49559 Q8IUH8 (SPPL2C) I V 471 rs12185268 Benign
49560 Q8IUH8 (SPPL2C) S P 601 rs12373123 Benign
49561 Q8IUH8 (SPPL2C) G R 620 rs12373139 Benign
49562 Q8IUH8 (SPPL2C) M V 626 rs17852270 Benign
49563 Q8IUH8 (SPPL2C) P R 643 rs12373142 Benign
49564 Q8IUH8 (SPPL2C) T I 659 rs16940694 Benign
49565 Q8IUI8 (CRLF3) V M 202 rs3764418 Benign
49566 Q8IUI8 (CRLF3) L P 389 rs11867457 Benign
49567 Q8IUK5 (PLXDC1) R H 462 rs75117355 Benign
49568 Q8IUM7 (NPAS4) F S 147 rs79072452 Benign
49569 Q8IUM7 (NPAS4) G C 208 rs905768 Benign
49570 Q8IUM7 (NPAS4) E K 257 rs375915619 Benign
49571 Q8IUM7 (NPAS4) W R 293 rs200310338 Benign
49572 Q8IUM7 (NPAS4) C R 296 - Benign
49573 Q8IUM7 (NPAS4) M L 317 rs76159120 Benign
49574 Q8IUM7 (NPAS4) P A 344 rs140299985 Benign
49575 Q8IUM7 (NPAS4) T I 359 rs145746289 Benign
49576 Q8IUM7 (NPAS4) P S 472 rs150700317 Benign
49577 Q8IUM7 (NPAS4) Q K 500 rs71457718 Benign
49578 Q8IUM7 (NPAS4) T M 587 rs142965018 Benign
49579 Q8IUM7 (NPAS4) N D 702 rs147463475 Benign
49580 Q8IUM7 (NPAS4) D Y 750 rs139929410 Benign
49581 Q8IUM7 (NPAS4) T I 777 rs111848728 Benign
49582 Q8IUN9 (CLEC10A) C R 35 rs90951 Benign
49583 Q8IUN9 (CLEC10A) R K 73 rs16956478 Benign
49584 Q8IUN9 (CLEC10A) T M 100 rs35318160 Benign
49585 Q8IUN9 (CLEC10A) A G 203 rs35101468 Benign
49586 Q8IUR0 (TRAPPC5) S A 52 rs6952 Benign
49587 Q8IUR5 (TMTC1) V L 814 rs17854190 Benign
49588 Q8IUR6 (CREBRF) T A 483 rs17854147 Benign
49589 Q8IUS5 (EPHX4) Y F 321 rs17854127 Benign
49590 Q8IUX1 (TMEM126B) A V 198 rs17850847 Benign
49591 Q8IUX1 (TMEM126B) G V 212 rs141542003 Disease: Mitochondria l complex I deficiency, nuclear type 29 (MC1DN29) [MIM:618250]
49592 Q8IUX4 (APOBEC3F) R P 48 rs35053197 Benign
49593 Q8IUX4 (APOBEC3F) Q L 61 rs2076109 Benign
49594 Q8IUX4 (APOBEC3F) P L 97 rs201939303 Benign
49595 Q8IUX4 (APOBEC3F) A S 108 rs2020390 Benign
49596 Q8IUX4 (APOBEC3F) A T 178 rs34182094 Benign
49597 Q8IUX4 (APOBEC3F) V I 231 rs2076101 Benign
49598 Q8IUX4 (APOBEC3F) Y C 307 rs12157816 Benign
49599 Q8IUX7 (AEBP1) P T 273 rs2537188 Benign
49600 Q8IUX7 (AEBP1) D E 648 rs11770649 Benign
49601 Q8IUX7 (AEBP1) P L 1001 rs4724285 Benign
49602 Q8IUX7 (AEBP1) K E 1133 rs13928 Benign
49603 Q8IUX7 (AEBP1) V I 1148 rs13898 Benign
49604 Q8IUX8 (EGFL6) E K 66 rs16979010 Benign
49605 Q8IUX8 (EGFL6) R C 164 rs34613284 Benign
49606 Q8IUX8 (EGFL6) L F 508 rs34550481 Benign
49607 Q8IUX8 (EGFL6) D N 535 rs16979033 Benign
49608 Q8IUZ5 (PHYKPL) H R 126 rs7707147 Benign
49609 Q8IUZ5 (PHYKPL) G R 240 rs201105857 Disease: Phosphohydro xylysinuria (PHLU) [MIM:615011]
49610 Q8IUZ5 (PHYKPL) E V 437 rs142181517 Disease: Phosphohydro xylysinuria (PHLU) [MIM:615011]
49611 Q8IV01 (SYT12) N H 170 rs11227664 Benign
49612 Q8IV03 (LURAP1L) S G 62 rs3750501 Benign
49613 Q8IV08 (PLD3) G S 63 rs142070038 Benign
49614 Q8IV08 (PLD3) P A 76 rs138674695 Benign
49615 Q8IV08 (PLD3) V M 159 rs374184677 Benign
49616 Q8IV08 (PLD3) R C 162 - Benign
49617 Q8IV08 (PLD3) P S 173 rs866850284 Benign
49618 Q8IV08 (PLD3) A G 175 rs780604999 Benign
49619 Q8IV08 (PLD3) R C 188 rs1326374111 Benign
49620 Q8IV08 (PLD3) R H 222 rs765630414 Benign
49621 Q8IV08 (PLD3) R Q 242 rs757965784 Benign
49622 Q8IV08 (PLD3) E G 249 rs746715924 Benign
49623 Q8IV08 (PLD3) R C 272 rs144312764 Benign
49624 Q8IV08 (PLD3) N S 284 rs200274020 Benign
49625 Q8IV08 (PLD3) A V 293 rs368737000 Benign
49626 Q8IV08 (PLD3) P L 297 - Benign
49627 Q8IV08 (PLD3) C Y 300 rs146083475 Benign
49628 Q8IV08 (PLD3) V I 358 rs370488565 Benign
49629 Q8IV08 (PLD3) T A 426 rs745463234 Benign
49630 Q8IV08 (PLD3) G R 429 rs986006936 Benign
49631 Q8IV13 (CCNJL) H Y 234 rs13362036 Benign
49632 Q8IV16 (GPIHBP1) C F 14 rs11538389 Benign
49633 Q8IV16 (GPIHBP1) G R 56 rs587777636 Benign
49634 Q8IV16 (GPIHBP1) C S 65 rs587777638 Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49635 Q8IV16 (GPIHBP1) C Y 65 rs587777638 Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49636 Q8IV16 (GPIHBP1) C G 68 rs587777639 Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49637 Q8IV16 (GPIHBP1) C Y 68 - Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49638 Q8IV16 (GPIHBP1) C R 83 - Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49639 Q8IV16 (GPIHBP1) C F 89 rs587777640 Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49640 Q8IV16 (GPIHBP1) T R 108 - Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49641 Q8IV16 (GPIHBP1) Q P 115 rs587777637 Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49642 Q8IV16 (GPIHBP1) S F 144 rs78367243 Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49643 Q8IV16 (GPIHBP1) G R 175 rs145844329 Disease: Hyperlipopro teinemia 1D (HLPP1D) [MIM:615947]
49644 Q8IV20 (LACC1) I V 254 rs3764147 Benign
49645 Q8IV32 (CCDC71) Q L 317 rs4955419 Benign
49646 Q8IV32 (CCDC71) W R 339 rs4955418 Benign
49647 Q8IV33 (KIAA0825) K E 46 rs2044909 Benign
49648 Q8IV35 (WDR49) L P 651 rs13060964 Benign
49649 Q8IV42 (PSTK) G R 206 rs3736582 Benign
49650 Q8IV45 (UNC5CL) R G 432 rs742493 Benign
49651 Q8IV48 (ERI1) L P 16 rs2288672 Benign
49652 Q8IV50 (LYSMD2) I V 107 rs3751593 Benign
49653 Q8IV50 (LYSMD2) S F 164 rs7168775 Benign
49654 Q8IV53 (DENND1C) A T 23 rs10416003 Benign
49655 Q8IV53 (DENND1C) R C 489 rs35001260 Benign
49656 Q8IV53 (DENND1C) A V 542 rs35810378 Benign
49657 Q8IV56 (PRR15) P S 115 rs10271996 Benign
49658 Q8IV61 (RASGRP3) T A 393 rs13388394 Benign
49659 Q8IV63 (VRK3) S F 59 rs2033262 Benign
49660 Q8IV63 (VRK3) P T 105 rs11547882 Benign
49661 Q8IV63 (VRK3) S P 170 rs11547881 Benign
49662 Q8IV63 (VRK3) F L 171 rs11547883 Benign
49663 Q8IV63 (VRK3) T A 188 rs11879620 Benign
49664 Q8IV63 (VRK3) S L 268 rs10410075 Benign
49665 Q8IV63 (VRK3) C Y 288 rs10409482 Benign
49666 Q8IV63 (VRK3) H L 304 rs35261919 Benign
49667 Q8IV63 (VRK3) R C 370 rs35331034 Benign
49668 Q8IV63 (VRK3) S G 371 rs56407496 Benign
49669 Q8IV76 (PASD1) Q E 213 rs5924658 Benign
49670 Q8IV77 (CNGA4) E V 553 rs325706 Benign
49671 Q8IVB4 (SLC9A9) I V 540 rs16853300 Benign
49672 Q8IVB4 (SLC9A9) I V 589 rs2289491 Benign
49673 Q8IVC4 (ZNF584) P S 142 rs11668789 Benign
49674 Q8IVC4 (ZNF584) T A 301 rs7257872 Benign
49675 Q8IVD9 (NUDCD3) T P 3 rs307007 Benign
49676 Q8IVD9 (NUDCD3) R C 235 rs11550029 Benign
49677 Q8IVE3 (PLEKHH2) M V 228 rs10175843 Benign
49678 Q8IVE3 (PLEKHH2) P T 481 rs17031297 Benign
49679 Q8IVE3 (PLEKHH2) R K 1069 rs2278358 Benign
49680 Q8IVE3 (PLEKHH2) N S 1217 rs17031368 Benign
49681 Q8IVF2 (AHNAK2) T A 525 rs2278607 Benign
49682 Q8IVF2 (AHNAK2) V M 1266 rs748458962 Benign
49683 Q8IVF2 (AHNAK2) M I 1298 rs2819440 Benign
49684 Q8IVF2 (AHNAK2) L V 1470 - Benign
49685 Q8IVF2 (AHNAK2) E D 1856 rs2819435 Benign
49686 Q8IVF2 (AHNAK2) M V 2107 rs11846918 Benign
49687 Q8IVF2 (AHNAK2) S R 2115 rs2582514 Benign
49688 Q8IVF2 (AHNAK2) L V 2146 rs12890949 Benign
49689 Q8IVF2 (AHNAK2) K R 2410 rs11845746 Benign
49690 Q8IVF2 (AHNAK2) D E 2429 rs11160826 Benign
49691 Q8IVF2 (AHNAK2) L V 2430 rs2819426 Benign
49692 Q8IVF2 (AHNAK2) E A 2503 rs2819429 Benign
49693 Q8IVF2 (AHNAK2) V A 2616 rs4264326 Benign
49694 Q8IVF2 (AHNAK2) R S 2862 rs2582514 Benign
49695 Q8IVF2 (AHNAK2) D E 3176 rs11160826 Benign
49696 Q8IVF2 (AHNAK2) L V 3177 rs2819426 Benign
49697 Q8IVF2 (AHNAK2) P L 3336 rs10438247 Benign
49698 Q8IVF2 (AHNAK2) V A 3363 rs4264326 Benign
49699 Q8IVF2 (AHNAK2) G E 3654 rs28380382 Benign
49700 Q8IVF2 (AHNAK2) D N 3793 rs11160825 Benign
49701 Q8IVF2 (AHNAK2) V L 3796 - Benign
49702 Q8IVF2 (AHNAK2) M V 3869 rs10438246 Benign
49703 Q8IVF2 (AHNAK2) K N 3902 rs2819423 Benign
49704 Q8IVF2 (AHNAK2) M V 3961 rs10141053 Benign
49705 Q8IVF2 (AHNAK2) I M 4071 rs2582511 Benign
49706 Q8IVF2 (AHNAK2) A V 4085 rs2013462 Benign
49707 Q8IVF2 (AHNAK2) F L 4138 rs2582505 Benign
49708 Q8IVF2 (AHNAK2) D N 4198 rs534942818 Benign
49709 Q8IVF2 (AHNAK2) K N 4232 rs2819423 Benign
49710 Q8IVF2 (AHNAK2) V A 4278 rs2819422 Benign
49711 Q8IVF2 (AHNAK2) L P 4326 rs2819421 Benign
49712 Q8IVF2 (AHNAK2) P L 4478 rs2582513 Benign
49713 Q8IVF2 (AHNAK2) M L 4536 rs9672139 Benign
49714 Q8IVF2 (AHNAK2) T A 4664 rs4465542 Benign
49715 Q8IVF2 (AHNAK2) L M 5028 rs9672139 Benign
49716 Q8IVF2 (AHNAK2) G R 5072 rs2819420 Benign
49717 Q8IVF2 (AHNAK2) G E 5139 rs61421370 Benign
49718 Q8IVF2 (AHNAK2) Y D 5184 rs2819419 Benign
49719 Q8IVF2 (AHNAK2) P A 5397 rs3742935 Benign
49720 Q8IVF2 (AHNAK2) G R 5564 rs2819420 Benign
49721 Q8IVF2 (AHNAK2) T M 5732 rs748358 Benign
49722 Q8IVF4 (DNAH10) S P 167 rs11057353 Benign
49723 Q8IVF4 (DNAH10) I V 480 rs10846559 Benign
49724 Q8IVF4 (DNAH10) T M 1724 rs34934281 Benign
49725 Q8IVF4 (DNAH10) D E 1767 rs7969937 Benign
49726 Q8IVF4 (DNAH10) R K 1865 rs35685787 Benign
49727 Q8IVF4 (DNAH10) T M 1986 rs33935373 Benign
49728 Q8IVF4 (DNAH10) R W 2403 rs7977449 Benign
49729 Q8IVF4 (DNAH10) N S 2483 rs11835416 Benign
49730 Q8IVF5 (TIAM2) R H 332 rs931312 Benign
49731 Q8IVF5 (TIAM2) R H 913 rs7770537 Benign
49732 Q8IVF5 (TIAM2) S P 1089 rs4259257 Benign
49733 Q8IVF5 (TIAM2) R C 1101 rs11751128 Benign
49734 Q8IVF5 (TIAM2) D E 1572 rs1571767 Benign
49735 Q8IVF6 (ANKRD18A) E K 130 rs1832313 Benign
49736 Q8IVF6 (ANKRD18A) A E 277 rs632200 Benign
49737 Q8IVF6 (ANKRD18A) N S 484 rs2996347 Benign
49738 Q8IVF6 (ANKRD18A) Y C 688 rs2799163 Benign
49739 Q8IVF6 (ANKRD18A) E D 838 rs12341435 Benign
49740 Q8IVF6 (ANKRD18A) T I 942 rs11999308 Benign
49741 Q8IVF6 (ANKRD18A) E D 945 rs12341435 Benign
49742 Q8IVG5 (SAMD9L) V I 266 rs10488532 Benign
49743 Q8IVG5 (SAMD9L) F S 289 rs2073793 Benign
49744 Q8IVG5 (SAMD9L) H Q 880 rs878855336 Disease: Ataxia- pancytopenia syndrome (ATXPC) [MIM:159550]
49745 Q8IVG5 (SAMD9L) G A 1137 rs17165111 Benign
49746 Q8IVG5 (SAMD9L) N T 1516 rs10282508 Benign
49747 Q8IVH4 (MMAA) L P 89 rs864309726 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49748 Q8IVH4 (MMAA) R G 98 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49749 Q8IVH4 (MMAA) R Q 145 rs200577967 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49750 Q8IVH4 (MMAA) G E 147 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49751 Q8IVH4 (MMAA) G R 188 rs864309729 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49752 Q8IVH4 (MMAA) G D 192 rs1553958392 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49753 Q8IVH4 (MMAA) Y C 207 rs104893849 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49754 Q8IVH4 (MMAA) R S 209 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49755 Q8IVH4 (MMAA) G E 218 rs864309730 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49756 Q8IVH4 (MMAA) V M 220 rs150376474 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49757 Q8IVH4 (MMAA) I F 241 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49758 Q8IVH4 (MMAA) T N 243 rs1553958417 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49759 Q8IVH4 (MMAA) E K 250 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49760 Q8IVH4 (MMAA) D N 258 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49761 Q8IVH4 (MMAA) G D 274 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49762 Q8IVH4 (MMAA) G S 274 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49763 Q8IVH4 (MMAA) K E 276 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49764 Q8IVH4 (MMAA) A D 287 rs1553959024 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49765 Q8IVH4 (MMAA) D V 292 rs1553959025 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49766 Q8IVH4 (MMAA) R G 359 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49767 Q8IVH4 (MMAA) R Q 359 rs864309731 Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49768 Q8IVH4 (MMAA) Q H 363 rs2270655 Benign
49769 Q8IVH4 (MMAA) G V 399 - Disease: Methylmaloni c aciduria type cblA (MMAA) [MIM:251100]
49770 Q8IVH8 (MAP4K3) V L 200 rs35957290 Benign
49771 Q8IVH8 (MAP4K3) H Q 424 rs56317466 Benign
49772 Q8IVI9 (NOSTRIN) G E 473 rs479661 Benign
49773 Q8IVJ8 (APRG1) H Y 107 rs17266511 Benign
49774 Q8IVL0 (NAV3) T A 45 rs10735309 Benign
49775 Q8IVL0 (NAV3) S W 210 rs34195711 Benign
49776 Q8IVL1 (NAV2) R K 109 rs6483617 Benign
49777 Q8IVL1 (NAV2) Q H 491 rs16937251 Benign
49778 Q8IVL1 (NAV2) E D 1041 rs3802799 Benign
49779 Q8IVL1 (NAV2) P A 1077 rs3802800 Benign
49780 Q8IVL1 (NAV2) V I 2374 rs35891966 Benign
49781 Q8IVL5 (P3H2) G V 508 rs724159988 Disease: Myopia, high, with cataract and vitreoretina l degeneration (MCVD) [MIM:614292]
49782 Q8IVL6 (P3H3) T A 301 rs10744716 Benign
49783 Q8IVL6 (P3H3) R C 304 rs35359746 Benign
49784 Q8IVL6 (P3H3) G E 385 rs1047771 Benign
49785 Q8IVL6 (P3H3) I T 685 rs1129649 Benign
49786 Q8IVL6 (P3H3) M T 705 rs3213431 Benign
49787 Q8IVL8 (CPO) M I 85 rs13420911 Benign
49788 Q8IVL8 (CPO) S R 134 rs11903403 Benign
49789 Q8IVM0 (CCDC50) L F 121 rs35380043 Benign
49790 Q8IVM0 (CCDC50) M T 156 rs293813 Benign
49791 Q8IVN8 (SBSPON) F L 58 rs59331088 Benign
49792 Q8IVN8 (SBSPON) W R 186 rs2291219 Benign
49793 Q8IVP5 (FUNDC1) M V 56 rs189499062 Benign
49794 Q8IVS2 (MCAT) A G 303 rs13815 Benign
49795 Q8IVS8 (GLYCTK) R C 27 rs34502608 Benign
49796 Q8IVS8 (GLYCTK) L V 170 rs35130772 Benign
49797 Q8IVS8 (GLYCTK) T I 394 rs9813489 Benign
49798 Q8IVS8 (GLYCTK) F C 493 rs121909448 Disease: D-glyceric aciduria (D-GA) [MIM:220120]
49799 Q8IVT2 (MISP) A T 99 rs45477999 Benign
49800 Q8IVT2 (MISP) S G 156 rs3746173 Benign
49801 Q8IVT2 (MISP) K R 232 rs3746175 Benign
49802 Q8IVT2 (MISP) S N 269 rs35384259 Benign
49803 Q8IVT2 (MISP) E G 653 rs8107847 Benign
49804 Q8IVT5 (KSR1) S P 227 - Benign
49805 Q8IVT5 (KSR1) V A 359 - Benign
49806 Q8IVT5 (KSR1) Q H 663 - Benign
49807 Q8IVU1 (IGDCC3) V L 751 rs12907128 Benign
49808 Q8IVU3 (HERC6) M T 123 rs7677237 Benign
49809 Q8IVU3 (HERC6) C R 199 rs12510688 Benign
49810 Q8IVU3 (HERC6) F L 343 rs17014118 Benign
49811 Q8IVU3 (HERC6) T I 614 rs6532068 Benign
49812 Q8IVV2 (LOXHD1) V I 363 rs10163657 Benign
49813 Q8IVV2 (LOXHD1) G C 626 rs34589386 Benign
49814 Q8IVV2 (LOXHD1) G C 632 rs35088381 Benign
49815 Q8IVV2 (LOXHD1) D G 676 rs16978578 Benign
49816 Q8IVV2 (LOXHD1) V M 825 rs36086089 Benign
49817 Q8IVV2 (LOXHD1) T M 1177 rs7244681 Benign
49818 Q8IVV2 (LOXHD1) E G 1417 rs12606417 Benign
49819 Q8IVV8 (NKAIN4) K Q 91 rs1129659 Benign
49820 Q8IVV8 (NKAIN4) A D 131 rs2236194 Benign
49821 Q8IVV8 (NKAIN4) C G 151 rs872808 Benign
49822 Q8IVV8 (NKAIN4) E D 173 rs11556207 Benign
49823 Q8IVW1 (ARL17A) L I 170 - Benign
49824 Q8IVW4 (CDKL3) M T 394 rs35687772 Benign
49825 Q8IVY1 (C1orf210) S L 12 rs35465732 Benign
49826 Q8IW00 (VSTM4) F S 68 rs13088 Benign
49827 Q8IW00 (VSTM4) K R 243 rs17854124 Benign
49828 Q8IW19 (APLF) I V 100 rs11902811 Benign
49829 Q8IW19 (APLF) S T 224 rs35002937 Benign
49830 Q8IW19 (APLF) L F 336 rs13404469 Benign
49831 Q8IW36 (ZNF695) R K 84 rs2642973 Benign
49832 Q8IW36 (ZNF695) V A 87 rs2642992 Benign
49833 Q8IW36 (ZNF695) M I 110 rs55762230 Benign
49834 Q8IW41 (MAPKAPK5) M I 67 rs34132040 Benign
49835 Q8IW41 (MAPKAPK5) R K 282 rs34843470 Benign
49836 Q8IW45 (NAXD) G S 81 - Disease: Encephalopat hy, progressive, early-onset, with brain edema and/or leukoencepha lopathy, 2 (PEBEL2) [MIM:618321]
49837 Q8IW45 (NAXD) K E 140 rs3742191 Benign
49838 Q8IW45 (NAXD) V I 149 rs3742192 Benign
49839 Q8IW45 (NAXD) P T 152 rs1044112 Benign
49840 Q8IW45 (NAXD) R C 326 - Disease: Encephalopat hy, progressive, early-onset, with brain edema and/or leukoencepha lopathy, 2 (PEBEL2) [MIM:618321]
49841 Q8IW75 (SERPINA12) Q K 142 rs17090972 Benign
49842 Q8IW75 (SERPINA12) D G 219 rs192558870 Benign
49843 Q8IW75 (SERPINA12) I V 394 rs34519784 Benign
49844 Q8IW93 (ARHGEF19) G R 163 rs221058 Benign
49845 Q8IW93 (ARHGEF19) E Q 238 rs221057 Benign
49846 Q8IWA4 (MFN1) R P 523 rs7637065 Benign
49847 Q8IWA5 (SLC44A2) Q R 154 rs2288904 Benign
49848 Q8IWA6 (CCDC60) I V 46 rs1064319 Benign
49849 Q8IWA6 (CCDC60) T A 115 rs2519540 Benign
49850 Q8IWA6 (CCDC60) V I 393 rs16949292 Benign
49851 Q8IWB6 (TEX14) D G 88 rs56292204 Benign
49852 Q8IWB6 (TEX14) S C 443 - Benign
49853 Q8IWB6 (TEX14) I M 559 - Benign
49854 Q8IWB9 (TEX2) T I 158 rs28605685 Benign
49855 Q8IWC1 (MAP7D3) E A 502 rs1055497 Benign
49856 Q8IWC1 (MAP7D3) K R 561 rs748582851 Benign
49857 Q8IWC1 (MAP7D3) Q R 628 rs2273221 Benign
49858 Q8IWD4 (CCDC117) R S 147 rs13057011 Benign
49859 Q8IWD4 (CCDC117) S N 272 rs9613680 Benign
49860 Q8IWD5 (MFSD6L) R H 486 rs2242373 Benign
49861 Q8IWE2 (FAM114A1) S L 40 rs34137542 Benign
49862 Q8IWE2 (FAM114A1) G R 84 rs11096964 Benign
49863 Q8IWE2 (FAM114A1) L P 116 rs11555334 Benign
49864 Q8IWE2 (FAM114A1) P L 201 rs430296 Benign
49865 Q8IWE2 (FAM114A1) R H 367 rs2306923 Benign
49866 Q8IWE2 (FAM114A1) V I 443 rs17429619 Benign
49867 Q8IWE2 (FAM114A1) S L 446 rs36058104 Benign
49868 Q8IWE5 (PLEKHM2) I T 32 rs12091750 Benign
49869 Q8IWF2 (FOXRED2) R C 71 rs56767103 Benign
49870 Q8IWF2 (FOXRED2) F L 179 rs760718 Benign
49871 Q8IWF2 (FOXRED2) N S 308 rs2277841 Benign
49872 Q8IWF2 (FOXRED2) K R 374 rs35813894 Benign
49873 Q8IWF2 (FOXRED2) E D 637 rs35748020 Benign
49874 Q8IWF9 (CCDC83) T A 49 rs12362209 Benign
49875 Q8IWG1 (WDR63) T A 674 rs17121745 Benign
49876 Q8IWG1 (WDR63) R H 798 rs709783 Benign
49877 Q8IWI9 (MGA) T A 338 rs3803348 Benign
49878 Q8IWI9 (MGA) T S 716 rs2178004 Benign
49879 Q8IWI9 (MGA) C R 1270 rs17677811 Benign
49880 Q8IWI9 (MGA) P A 1523 rs17677991 Benign
49881 Q8IWJ2 (GCC2) Q E 1134 rs2718698 Benign
49882 Q8IWJ2 (GCC2) R G 1298 rs1061202 Benign
49883 Q8IWK6 (ADGRA3) V M 1043 rs9002 Benign
49884 Q8IWK6 (ADGRA3) V G 1166 rs3814416 Benign
49885 Q8IWL1 (SFTPA2) N T 9 rs1059046 Benign
49886 Q8IWL1 (SFTPA2) L W 12 rs72659394 Benign
49887 Q8IWL1 (SFTPA2) V L 50 rs192907309 Benign
49888 Q8IWL1 (SFTPA2) A P 91 rs17886395 Benign
49889 Q8IWL1 (SFTPA2) F S 198 rs121917738 Disease: Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]
49890 Q8IWL1 (SFTPA2) Q K 223 rs1965708 Benign
49891 Q8IWL1 (SFTPA2) G V 231 rs121917737 Disease: Pulmonary fibrosis, idiopathic (IPF) [MIM:178500]
49892 Q8IWL2 (SFTPA1) P L 5 rs72659389 Benign
49893 Q8IWL2 (SFTPA1) N T 9 rs139899873 Benign
49894 Q8IWL2 (SFTPA1) V A 19 rs1059047 Benign
49895 Q8IWL2 (SFTPA1) L V 50 rs1136450 Benign
49896 Q8IWL2 (SFTPA1) R W 219 rs4253527 Benign
49897 Q8IWL2 (SFTPA1) Q K 223 rs1965708 Benign
49898 Q8IWL3 (HSCB) Y C 73 rs17886090 Benign
49899 Q8IWL3 (HSCB) I M 163 rs17884212 Benign
49900 Q8IWL8 (STH) Q R 7 rs62063857 Benign
49901 Q8IWN7 (RP1L1) P A 44 rs140397694 Benign
49902 Q8IWN7 (RP1L1) R W 45 rs267607017 Disease: Occult macular dystrophy (OCMD) [MIM:613587]
49903 Q8IWN7 (RP1L1) R C 56 rs150931842 Benign
49904 Q8IWN7 (RP1L1) T S 112 rs6601495 Benign
49905 Q8IWN7 (RP1L1) R H 136 rs189960401 Benign
49906 Q8IWN7 (RP1L1) H P 222 rs4388421 Benign
49907 Q8IWN7 (RP1L1) A V 487 rs74400517 Benign
49908 Q8IWN7 (RP1L1) G S 514 rs74990397 Benign
49909 Q8IWN7 (RP1L1) A T 624 rs141846905 Benign
49910 Q8IWN7 (RP1L1) L P 792 rs35602868 Benign
49911 Q8IWN7 (RP1L1) E K 795 rs199746022 Benign
49912 Q8IWN7 (RP1L1) R W 860 rs62490856 Benign
49913 Q8IWN7 (RP1L1) W R 960 rs267607018 Disease: Occult macular dystrophy (OCMD) [MIM:613587]
49914 Q8IWN7 (RP1L1) R W 1146 rs4840502 Benign
49915 Q8IWN7 (RP1L1) S C 1199 rs863225442 Disease: Occult macular dystrophy (OCMD) [MIM:613587]
49916 Q8IWN7 (RP1L1) A S 1285 - Benign
49917 Q8IWN7 (RP1L1) A G 1319 rs4840501 Benign
49918 Q8IWN7 (RP1L1) E G 1324 rs4240659 Benign
49919 Q8IWN7 (RP1L1) G R 1335 rs61503212 Benign
49920 Q8IWN7 (RP1L1) R S 1467 rs4840498 Benign
49921 Q8IWN7 (RP1L1) A V 1483 rs62490855 Benign
49922 Q8IWN7 (RP1L1) P R 1495 rs4841399 Benign
49923 Q8IWN7 (RP1L1) S L 1505 rs202068070 Benign
49924 Q8IWN7 (RP1L1) A V 1709 rs13267180 Benign
49925 Q8IWN7 (RP1L1) G D 1816 rs79019225 Benign
49926 Q8IWN7 (RP1L1) D V 1889 rs28446662 Benign
49927 Q8IWN7 (RP1L1) A E 1946 rs11785822 Benign
49928 Q8IWN7 (RP1L1) T A 1954 rs11783478 Benign
49929 Q8IWN7 (RP1L1) G V 2069 - Benign
49930 Q8IWN7 (RP1L1) Q H 2088 rs11778341 Benign
49931 Q8IWN7 (RP1L1) E K 2091 rs4354268 Benign
49932 Q8IWN7 (RP1L1) E K 2140 rs72494282 Benign
49933 Q8IWN7 (RP1L1) E K 2171 rs4354268 Benign
49934 Q8IWN7 (RP1L1) P L 2199 rs75797924 Benign
49935 Q8IWN7 (RP1L1) E G 2242 - Benign
49936 Q8IWN7 (RP1L1) G R 2285 rs55642448 Benign
49937 Q8IWN7 (RP1L1) H R 2335 rs117007660 Benign
49938 Q8IWP9 (CCDC28A) S Y 42 rs34538642 Benign
49939 Q8IWP9 (CCDC28A) P L 82 rs2273510 Benign
49940 Q8IWR0 (ZC3H7A) N S 3 rs1429077 Benign
49941 Q8IWR0 (ZC3H7A) H R 57 rs16958654 Benign
49942 Q8IWS0 (PHF6) C Y 45 rs132630299 Disease: Boerjeson- Forssman- Lehmann syndrome (BFLS) [MIM:301900]
49943 Q8IWS0 (PHF6) C F 99 rs132630298 Disease: Boerjeson- Forssman- Lehmann syndrome (BFLS) [MIM:301900]
49944 Q8IWS0 (PHF6) H R 229 rs104894918 Disease: Boerjeson- Forssman- Lehmann syndrome (BFLS) [MIM:301900]
49945 Q8IWS0 (PHF6) K E 234 rs104894917 Disease: Boerjeson- Forssman- Lehmann syndrome (BFLS) [MIM:301900]
49946 Q8IWS0 (PHF6) R G 257 rs104894919 Disease: Boerjeson- Forssman- Lehmann syndrome (BFLS) [MIM:301900]
49947 Q8IWS0 (PHF6) C F 305 rs587777489 Disease: Boerjeson- Forssman- Lehmann syndrome (BFLS) [MIM:301900]
49948 Q8IWT1 (SCN4B) V G 162 rs587777559 Disease: Atrial fibrillation , familial, 17 (ATFB17) [MIM:611819]
49949 Q8IWT1 (SCN4B) I L 166 rs587777560 Disease: Atrial fibrillation , familial, 17 (ATFB17) [MIM:611819]
49950 Q8IWT1 (SCN4B) L F 179 rs121434386 Disease: Long QT syndrome 10 (LQT10) [MIM:611819]
49951 Q8IWT3 (CUL9) H P 2058 rs2273709 Benign
49952 Q8IWT3 (CUL9) T I 2180 rs11962520 Benign
49953 Q8IWU2 (LMTK2) P A 30 rs3735252 Benign
49954 Q8IWU2 (LMTK2) V I 595 rs34461195 Benign
49955 Q8IWU2 (LMTK2) V M 624 rs34628253 Benign
49956 Q8IWU2 (LMTK2) I T 693 rs56204700 Benign
49957 Q8IWU2 (LMTK2) L M 780 rs11765552 Benign
49958 Q8IWU2 (LMTK2) V F 849 rs56196840 Benign
49959 Q8IWU2 (LMTK2) A T 862 rs34005293 Benign
49960 Q8IWU2 (LMTK2) S R 916 rs55867257 Benign
49961 Q8IWU2 (LMTK2) D N 1061 rs3801295 Benign
49962 Q8IWU2 (LMTK2) D N 1220 rs35912712 Benign
49963 Q8IWU2 (LMTK2) A G 1341 rs56343792 Benign
49964 Q8IWU2 (LMTK2) S N 1401 rs45488394 Benign
49965 Q8IWU4 (SLC30A8) R Q 325 rs16889462 Benign
49966 Q8IWU4 (SLC30A8) R W 325 rs13266634 Benign
49967 Q8IWU5 (SULF2) A T 76 rs56218501 Benign
49968 Q8IWU5 (SULF2) R H 674 rs10048853 Benign
49969 Q8IWU9 (TPH2) L P 36 rs199775778 Benign
49970 Q8IWU9 (TPH2) L V 36 rs34115267 Benign
49971 Q8IWU9 (TPH2) S Y 41 rs78162420 Benign
49972 Q8IWU9 (TPH2) R C 55 rs75558144 Benign
49973 Q8IWU9 (TPH2) P S 206 rs17110563 Benign
49974 Q8IWU9 (TPH2) R W 303 rs120074176 Disease: Attention deficit-hype ractivity disorder 7 (ADHD7) [MIM:613003]
49975 Q8IWU9 (TPH2) A V 328 rs2887147 Benign
49976 Q8IWU9 (TPH2) R H 441 rs120074175 Benign
49977 Q8IWU9 (TPH2) Q R 468 rs1317926854 Benign
49978 Q8IWU9 (TPH2) D E 479 rs7488262 Benign
49979 Q8IWV7 (UBR1) V L 122 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49980 Q8IWV7 (UBR1) C F 127 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49981 Q8IWV7 (UBR1) H R 136 rs119477054 Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49982 Q8IWV7 (UBR1) H R 166 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49983 Q8IWV7 (UBR1) L R 217 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49984 Q8IWV7 (UBR1) I R 286 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49985 Q8IWV7 (UBR1) L P 317 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49986 Q8IWV7 (UBR1) A D 563 rs768686147 Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49987 Q8IWV7 (UBR1) K M 596 rs34568456 Benign
49988 Q8IWV7 (UBR1) S P 700 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49989 Q8IWV7 (UBR1) R C 754 rs1388367359 Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49990 Q8IWV7 (UBR1) R H 754 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49991 Q8IWV7 (UBR1) I V 899 rs35069201 Benign
49992 Q8IWV7 (UBR1) Q E 1102 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49993 Q8IWV7 (UBR1) R G 1242 rs1235541565 Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49994 Q8IWV7 (UBR1) G S 1279 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49995 Q8IWV7 (UBR1) P L 1426 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49996 Q8IWV7 (UBR1) S F 1427 rs1480939799 Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49997 Q8IWV7 (UBR1) S P 1431 rs140972409 Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
49998 Q8IWV7 (UBR1) T A 1548 rs3917223 Benign
49999 Q8IWV7 (UBR1) G R 1661 - Disease: Johanson- Blizzard syndrome (JBS) [MIM:243800]
50000 Q8IWV8 (UBR2) E D 172 rs6905054 Benign

Reference

  • Jaie Woodard, Chengxin Zhang, and Yang Zhang (2020) ADDRESS: A database of human disease-associated variants incorporating protein structure, binding and folding stabilities.

    • zhanglabzhanggroup.org | +65-6601-1241 | Computing 1, 13 Computing Drive, Singapore 117417