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
RS62642580 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS62642582 RPE65 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS62642583 RPE65 Health Risk Pathogenic Leber congenital amaurosis, Retinitis pigmentosa 20
RS62642584 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS62642859 PEX12 Health Risk Pathogenic Peroxisome biogenesis disorder 3A (Zellweger), Peroxisome biogenesis disorder type 3B
RS62642906 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642907 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642908 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642910 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642912 PAH Health Risk Conflicting classifications of pathogenicity Phenylketonuria, Phenylketonuria
RS62642913 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62642914 PAH Health Risk Likely pathogenic See cases, Phenylketonuria
RS62642915 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642916 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62642917 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62642920 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642921 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642926 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS62642928 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642929 PAH Health Risk Likely pathogenic Phenylketonuria, PAH-related disorder
RS62642930 PAH Health Risk Pathogenic/Likely pathogenic Phenylketonuria, Phenylketonuria
RS62642932 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642933 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS62642934 PAH Health Risk Pathogenic Hyperphenylalaninemia, Phenylketonuria
RS62642935 PAH Health Risk Pathogenic Phenylketonuria, PAH-related disorder
RS62642936 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642937 PAH Health Risk Pathogenic Hyperphenylalaninemia, Phenylketonuria
RS62642939 PAH Health Risk Likely pathogenic Phenylketonuria, Hyperphenylalaninemia
RS62642940 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642941 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642942 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62642944 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62642945 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62643608 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS62643614 CDKL5 Health Risk Pathogenic Atypical Rett syndrome, Angelman syndrome-like
RS62643619 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS62643623 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS62643624 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS62643625 VWF Health Risk Pathogenic Hereditary von Willebrand disease, Hereditary von Willebrand disease
RS62643628 VWF Health Risk Likely pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS62643630 VWF Health Risk Likely pathogenic von Willebrand disease type 2N, von Willebrand disease type 2N
RS62643632 VWF Health Risk Pathogenic von Willebrand disease type 3, Hereditary von Willebrand disease
RS62643634 VWF Health Risk Likely pathogenic Abnormality of coagulation, Abnormality of coagulation
RS62643640 VWF Health Risk Pathogenic von Willebrand disease type 3, von Willebrand disease type 3
RS62644465 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62644467 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62644469 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62644471 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62644473 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62644475 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62644477 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62644499 PAH Health Risk Pathogenic Hyperphenylalaninemia, Phenylketonuria
RS62644501 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62644503 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS62645741 GPR143 Health Risk Pathogenic Ocular albinism, type I
RS62645746 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS62645747 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis 1
RS62645748 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS62645749 CRB1 Health Risk Conflicting classifications of pathogenicity Pigmented paravenous retinochoroidal atrophy, Leber congenital amaurosis 8
RS62645750 CRB1 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 12, Leber congenital amaurosis 8
RS62645752 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Leber congenital amaurosis
RS62645754 CRB1 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis, Leber congenital amaurosis 8
RS62645755 CRB1 Health Risk Likely pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS62645882 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS62645885 RS1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS62645886 RS1 Health Risk Pathogenic —
RS62645889 RS1 Health Risk Pathogenic Retinal dystrophy, Juvenile retinoschisis
RS62645892 RS1 Health Risk Conflicting classifications of pathogenicity —
RS62645894 RS1 Health Risk Likely pathogenic Juvenile retinoschisis, Retinal dystrophy
RS62645895 RS1 Health Risk Pathogenic Juvenile retinoschisis, Juvenile retinoschisis
RS62645900 RS1 Health Risk Pathogenic —
RS62645902 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism, Oculocutaneous albinism
RS62645904 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Nonsyndromic Oculocutaneous Albinism
RS62645908 TYR Health Risk Conflicting classifications of pathogenicity Oculocutaneous albinism type 1A, SKIN/HAIR/EYE PIGMENTATION 3
RS62645909 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS62645914 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism, Oculocutaneous albinism type 1
RS62645916 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1A, Oculocutaneous albinism type 1B
RS62645917 TYR Health Risk Pathogenic Oculocutaneous albinism type 1A, Nonsyndromic Oculocutaneous Albinism
RS62645924 TYR Health Risk Pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN
RS62645929 PRPH2 Health Risk Pathogenic Retinal dystrophy, PRPH2-related disorder
RS62645931 PRPH2 Health Risk Pathogenic/Likely pathogenic PRPH2-related disorder, Retinal dystrophy
RS62645932 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS62645934 PRPH2 Health Risk Pathogenic —
RS62645935 PRPH2 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 7, PRPH2-related disorder
RS62645936 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, Retinal dystrophy
RS62645937 PRPH2 Health Risk Pathogenic —
RS62645938 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS62645939 PRPH2 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, PRPH2-related disorder
RS62645942 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS62645943 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS62645944 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS62645946 ABCA4 Health Risk Pathogenic ABCA4-related disorder, Retinal dystrophy
RS62645948 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS62645949 ABCA4 Health Risk Pathogenic —
RS62645950 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS62645952 ABCA4 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 3, Retinal dystrophy
RS62645957 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS62645958 ABCA4 Health Risk Pathogenic/Likely pathogenic ABCA4-related disorder, Retinal dystrophy
RS62646860 ABCA4 Health Risk Pathogenic/Likely pathogenic Age related macular degeneration 2, Stargardt disease
RS62646861 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
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