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
RS2538687076 NR5A1 Health Risk Pathogenic 46, XY disorder of sex development
RS2538687168 SEPHS1 Health Risk Pathogenic —
RS2538687191 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS2538687495 NR5A1 Health Risk Pathogenic/Likely pathogenic Oligosynaptic infertility, 46
RS2538687504 NR5A1 Health Risk Likely pathogenic 46, XY sex reversal 3
RS2538687549 NR5A1 Health Risk Likely pathogenic See cases, See cases
RS2538687690 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS2538687943 TJP2 Health Risk Pathogenic —
RS2538690501 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538693976 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538699490 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538701649 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538704291 FREM1 Health Risk Pathogenic BNAR syndrome, BNAR syndrome
RS2538705379 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538706532 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538714375 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538715524 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538718859 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538719684 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538720112 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538720142 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538720329 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538720827 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538721769 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538722919 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2538724290 HPS1 Health Risk Pathogenic —
RS2538725903 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538728433 TSC1 Health Risk Likely pathogenic —
RS2538728595 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538729222 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538729239 TPRN Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 79, Autosomal recessive nonsyndromic hearing loss 79
RS2538729329 ZNF462 Health Risk Likely pathogenic ZNF462-related disorder, ZNF462-related disorder
RS2538730433 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538730818 TPRN Health Risk Pathogenic —
RS2538731287 TPRN Health Risk Pathogenic —
RS2538732484 TPRN Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2538732612 HPS1 Health Risk Pathogenic —
RS2538733599 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538734048 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538734375 HPS1 Health Risk Pathogenic —
RS2538734736 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538735165 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538735580 SNAPC4 Health Risk Pathogenic Neurodevelopmental disorder with motor regression, progressive spastic paraplegia
RS2538736435 TSC1 Health Risk Pathogenic TSC1-related disorder, TSC1-related disorder
RS2538739746 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538742469 TSC1 Health Risk Pathogenic TSC1-related disorder, TSC1-related disorder
RS2538744314 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538744961 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538746576 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538747859 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2538749942 EHMT1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538750175 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2538751691 ZNF462 Health Risk Pathogenic —
RS2538754639 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538754819 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538755076 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, ARID1B-related disorder
RS2538758120 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538759165 HPS1 Health Risk Pathogenic —
RS2538759243 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538759626 ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538760474 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538760501 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538762702 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538763064 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS2538766212 ARID1B Health Risk Pathogenic —
RS2538766341 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538766989 TSC1 Health Risk Pathogenic TSC1-related disorder, TSC1-related disorder
RS2538767958 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538768319 ZNF462 Health Risk Pathogenic —
RS2538768546 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538772333 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538772369 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538772819 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538775055 ARID1B Health Risk Pathogenic —
RS2538775159 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538776350 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex, Ogna type
RS2538778615 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538779301 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538781228 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538781275 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538782467 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538783302 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538783712 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2538784632 ARID1B Health Risk Pathogenic —
RS2538785984 ARID1B Health Risk Pathogenic —
RS2538787233 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538788082 ARID1B Health Risk Pathogenic —
RS2538788673 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2538789882 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538791396 ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538791482 ZNF462 Health Risk Pathogenic/Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2538792125 ARID1B Health Risk Pathogenic —
RS2538792260 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS2538792415 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS2538792615 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2538793280 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2538793796 ARID1B Health Risk Pathogenic —
RS2538794640 DOCK8 Health Risk Likely pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538795130 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS2538795673 ARID1B Health Risk Pathogenic —
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