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
RS2101077991 ABCA4 Health Risk Likely pathogenic —
RS2101078030 ABCA4 Health Risk Pathogenic —
RS2101078285 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS2101078317 ABCA4 Health Risk Likely pathogenic Abnormality of the eye, Abnormality of the eye
RS2101078370 ABCA4 Health Risk Pathogenic —
RS2101078386 ABCA4 Health Risk Pathogenic —
RS2101078458 ABCA4 Health Risk Likely pathogenic —
RS2101078482 ABCA4 Health Risk Pathogenic Stargardt disease 3, Stargardt disease 3
RS2101079010 ABCA4 Health Risk Pathogenic —
RS2101079015 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2101079061 ABCA4 Health Risk Pathogenic —
RS2101079369 ABCA4 Health Risk Pathogenic —
RS2101079417 ABCA4 Health Risk Pathogenic —
RS2101079462 ABCA4 Health Risk Likely pathogenic Stargardt disease, Stargardt disease
RS2101084835 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101085885 DRAM2 Health Risk Likely pathogenic Cone-rod dystrophy 21, Cone-rod dystrophy 21
RS2101086076 DRAM2 Health Risk Pathogenic Cone-rod dystrophy 21, Cone-rod dystrophy 21
RS2101087046 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101087361 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101094012 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101095108 WARS2 Health Risk Likely pathogenic Neurodevelopmental disorder, mitochondrial
RS2101098803 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101101226 ABCA4 Health Risk Pathogenic —
RS2101101348 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2101101390 ABCA4 Health Risk Pathogenic —
RS2101101428 ABCA4 Health Risk Pathogenic —
RS2101104619 ABCA4 Health Risk Pathogenic —
RS2101106481 ABCA4 Health Risk Pathogenic —
RS2101106559 ABCA4 Health Risk Pathogenic —
RS2101106686 ABCA4 Health Risk Pathogenic —
RS2101106736 ABCA4 Health Risk Pathogenic —
RS2101107081 ABCA4 Health Risk Pathogenic —
RS2101107143 ABCA4 Health Risk Likely pathogenic —
RS2101110148 LRIF1 Health Risk Pathogenic Facioscapulohumeral muscular dystrophy 3, digenic
RS2101111970 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101112150 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101112572 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101113398 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101114577 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101121827 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS2101122493 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101126325 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101128055 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101128697 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101131514 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2101132362 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101132521 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2101133098 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2101135424 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2101135446 ABCA4 Health Risk Pathogenic —
RS2101135952 ABCA4 Health Risk Pathogenic/Likely pathogenic ABCA4-related retinopathy, ABCA4-related retinopathy
RS2101136443 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101136597 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101136632 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2101136881 AGL Health Risk Pathogenic Abnormality of metabolism/homeostasis, Abnormality of metabolism/homeostasis
RS2101137614 NOTCH2 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS2101139955 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101141863 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101142159 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101142622 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101142928 NOTCH2 Health Risk Pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101143618 NOTCH2 Health Risk Likely pathogenic Alagille syndrome due to a NOTCH2 point mutation, Hajdu-Cheney syndrome
RS2101144082 NOTCH2 Health Risk Likely pathogenic See cases, Alagille syndrome due to a NOTCH2 point mutation
RS2101144806 NOTCH2 Health Risk Likely pathogenic Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101145073 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS2101145154 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101145406 NOTCH2 Health Risk Pathogenic Keratoacanthoma, Keratoacanthoma
RS2101148246 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101148971 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101149228 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2101151409 NOTCH2 Health Risk Likely pathogenic —
RS2101154713 AMPD2 Health Risk Pathogenic Pontocerebellar hypoplasia type 9, Pontocerebellar hypoplasia type 9
RS2101154903 AMPD2 Health Risk Likely pathogenic —
RS2101155246 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2101155690 ABCA4 Health Risk Pathogenic —
RS2101156021 ABCA4 Health Risk Pathogenic —
RS2101156046 ABCA4 Health Risk Likely pathogenic —
RS2101156053 ABCA4 Health Risk Pathogenic —
RS2101156061 ABCA4 Health Risk Pathogenic —
RS2101158688 AMPD2 Health Risk Pathogenic Abnormality of the nervous system, Abnormality of the nervous system
RS2101160151 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS2101160478 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS2101160657 AMPD2 Health Risk Pathogenic Spastic ataxia, Spastic ataxia
RS2101162260 ABCA4 Health Risk Pathogenic —
RS2101162359 ABCA4 Health Risk Pathogenic —
RS2101162548 ABCA4 Health Risk Pathogenic —
RS2101162564 ABCA4 Health Risk Likely pathogenic —
RS2101162618 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Alagille syndrome due to a NOTCH2 point mutation
RS2101167069 ABCA4 Health Risk Pathogenic —
RS2101191227 ABCA4 Health Risk Pathogenic —
RS2101191402 ABCA4 Health Risk Pathogenic —
RS2101195348 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS2101195764 SLC35A3 Health Risk Pathogenic Autism spectrum disorder - epilepsy - arthrogryposis syndrome, Autism spectrum disorder - epilepsy - arthrogryposis syndrome
RS2101198087 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2101205361 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2101213034 COL11A1 Health Risk Likely pathogenic —
RS2101216259 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS2101219709 C8A Health Risk Pathogenic —
RS2101220673 PHGDH Health Risk Likely pathogenic PHGDH deficiency, PHGDH deficiency
RS2101221217 PHGDH Health Risk Pathogenic/Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
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