SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2472611378 COL4A4 Health Risk Pathogenic —
RS2472612326 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2472613209 COL4A4 Health Risk Pathogenic —
RS2472614282 RDH12 Health Risk Likely pathogenic Leber congenital amaurosis 13, Leber congenital amaurosis 13
RS2472617038 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2472625516 ZNF148 Health Risk Pathogenic —
RS2472632341 ROBO1 Health Risk Likely pathogenic Colon adenocarcinoma, Colon adenocarcinoma
RS2472642490 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472651728 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472651963 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472651997 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472652040 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472652110 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472652160 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472652226 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472652648 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472652678 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472652730 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472652738 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472656290 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472656870 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472657657 SETD5 Health Risk Pathogenic/Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, SETD5-related disorder
RS2472670494 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472670571 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472670867 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472671164 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472671527 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472679125 COL4A4 Health Risk Pathogenic/Likely pathogenic Hematuria, benign familial
RS2472679338 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2472680030 COL4A4 Health Risk Pathogenic/Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS2472681003 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472681060 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472681425 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472681502 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472681607 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472681649 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472681763 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472682698 ADCY5 Health Risk Likely pathogenic —
RS2472688343 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2472688813 HPS3 Health Risk Pathogenic —
RS2472688931 HPS3 Health Risk Pathogenic —
RS2472688962 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2472689165 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2472689274 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2472689364 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472689563 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472689579 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472689604 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472689679 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472689944 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472690126 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472690163 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472690178 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472690316 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472690332 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472690374 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472690386 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472690649 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472693625 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS2472695119 TRIP12 Health Risk Likely pathogenic —
RS2472696414 TRIP12 Health Risk Pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2472697711 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472697718 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472697869 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472698201 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472698721 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472698754 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472701285 SETD5 Health Risk Conflicting classifications of pathogenicity —
RS2472701576 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472701669 SETD5 Health Risk Pathogenic —
RS2472701826 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472701853 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472701905 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472702023 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472702248 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472702255 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472703303 SETD5 Health Risk Pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472703906 SETD5 Health Risk Pathogenic SETD5-related disorder, SETD5-related disorder
RS2472704134 SETD5 Health Risk Likely pathogenic SETD5-related disorder, SETD5-related disorder
RS2472704184 SETD5 Health Risk Pathogenic —
RS2472705278 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472705290 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472705466 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472705545 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472705610 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472705677 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472705740 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS2472709427 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS2472710376 GYG1 Health Risk Pathogenic Glycogen storage disease XV, Polyglucosan body myopathy type 2
RS2472716117 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472716150 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472716303 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472716381 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472716456 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472716698 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472716929 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472717033 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS2472723327 SETD5 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2472723709 SETD5 Health Risk Likely pathogenic Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
RS2472724023 SETD5 Health Risk Pathogenic —
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