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
RS2523628325 ABCA4 Health Risk Likely pathogenic —
RS2523631229 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523635525 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2523635615 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523635666 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523635789 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523635810 PPT1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523637901 ATP13A2 Health Risk Likely pathogenic Kufor-Rakeb syndrome, Kufor-Rakeb syndrome
RS2523637933 ABCA4 Health Risk Pathogenic —
RS2523638497 ABCA4 Health Risk Likely pathogenic —
RS2523638610 ATP13A2 Health Risk Pathogenic Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS2523642334 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523642484 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523642598 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523644245 ABCA4 Health Risk Pathogenic —
RS2523646410 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523648659 ABCA4 Health Risk Pathogenic —
RS2523648999 ABCA4 Health Risk Pathogenic —
RS2523649003 ABCA4 Health Risk Pathogenic —
RS2523655487 ABCA4 Health Risk Pathogenic —
RS2523655537 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy
RS2523657424 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2523657513 ABCA4 Health Risk Pathogenic —
RS2523657774 ABCA4 Health Risk Likely pathogenic —
RS2523657983 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS2523666112 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2523668348 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523668539 ABCA4 Health Risk Pathogenic —
RS2523668584 ABCA4 Health Risk Likely pathogenic —
RS2523668682 ABCA4 Health Risk Likely pathogenic —
RS2523668736 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, ABCA4-related retinopathy
RS2523668750 ABCA4 Health Risk Likely pathogenic —
RS2523668761 ABCA4 Health Risk Likely pathogenic —
RS2523668882 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523672360 ABCA4 Health Risk Pathogenic —
RS2523672443 ABCA4 Health Risk Pathogenic —
RS2523673228 DKC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2523675546 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523675796 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523678676 HPDL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523679280 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, X-linked
RS2523680394 DKC1 Health Risk Pathogenic Dyskeratosis congenita, Dyskeratosis congenita
RS2523680452 DKC1 Health Risk Likely pathogenic —
RS2523683923 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523684410 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523684857 PAK3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523685088 DKC1 Health Risk Pathogenic Cataracts, hearing impairment
RS2523685586 HPDL Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2523686609 PAK3 Health Risk Likely pathogenic Intellectual disability, X-linked 30
RS2523686625 ABCA4 Health Risk Likely pathogenic —
RS2523687692 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523687822 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523687837 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523687999 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523688009 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523689662 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523690043 NPHP4 Health Risk Likely pathogenic NPHP4-related disorder, NPHP4-related disorder
RS2523692309 ABCA4 Health Risk Pathogenic —
RS2523692876 NPHP4 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS2523693066 ABCA4 Health Risk Pathogenic —
RS2523693451 ABCA4 Health Risk Likely pathogenic —
RS2523694854 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523695424 DKC1 Health Risk Likely pathogenic Dyskeratosis congenita, X-linked
RS2523695759 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2523696591 ABCA4 Health Risk Pathogenic —
RS2523701032 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2523701167 ABCA4 Health Risk Pathogenic —
RS2523703359 CAMTA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2523706961 ABCA4 Health Risk Pathogenic —
RS2523707186 ABCA4 Health Risk Pathogenic —
RS2523707250 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS2523707270 ABCA4 Health Risk Pathogenic ABCA4-related retinopathy, ABCA4-related retinopathy
RS2523707283 ABCA4 Health Risk Conflicting classifications of pathogenicity —
RS2523707333 ABCA4 Health Risk Pathogenic —
RS2523709256 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523709453 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523709689 PPT1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523709882 PPT1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 1, Neuronal ceroid lipofuscinosis 1
RS2523714470 VWA1 Health Risk Pathogenic —
RS2523714894 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523715235 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523715237 ABCA4 Health Risk Likely pathogenic —
RS2523715511 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523715865 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523716613 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523717340 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523717357 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS2523718258 ABCA4 Health Risk Pathogenic —
RS2523721054 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS2523721234 VWA1 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2523721481 DOCK7 Health Risk Likely pathogenic DOCK7-related disorder, DOCK7-related disorder
RS2523722864 ABCA4 Health Risk Pathogenic —
RS2523723184 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523723187 ALG6 Health Risk Pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523723325 ABCA4 Health Risk Pathogenic —
RS2523723367 ABCA4 Health Risk Pathogenic —
RS2523723537 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523723541 ALG6 Health Risk Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS2523723957 VWA1 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2523727011 ABCA4 Health Risk Pathogenic —
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