SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS863224899 MYBPC3 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 4, Dilated cardiomyopathy 1A
RS863224900 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy, MYH7-related skeletal myopathy
RS863224901 NOTCH1 Health Risk Likely pathogenic Aortic valve disease 1, Aortic valve disease 1
RS863224902 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS863224903 NR2F1 Health Risk Likely pathogenic Bosch-Boonstra-Schaaf optic atrophy syndrome, Bosch-Boonstra-Schaaf optic atrophy syndrome
RS863224904 NR5A1 Health Risk Pathogenic 46, XY sex reversal 3
RS863224905 NSD1 Health Risk Pathogenic/Likely pathogenic Sotos syndrome, Sotos syndrome
RS863224906 OPA1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant optic atrophy classic form, OPA1-related disorder
RS863224907 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS863224908 PDE6C Health Risk Likely pathogenic Cone dystrophy 4, Cone dystrophy 4
RS863224909 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, Bannayan-Riley-Ruvalcaba syndrome
RS863224910 RAD21 Health Risk Likely pathogenic Cornelia de Lange syndrome 4, Cornelia de Lange syndrome 4
RS863224913 RPGRIP1 Health Risk Likely pathogenic Cone-rod dystrophy 13, Cone-rod dystrophy 13
RS863224914 RRM2B Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 8a, Mitochondrial DNA depletion syndrome 8a
RS863224916 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Hereditary spastic paraplegia
RS863224917 SATB2 Health Risk Likely pathogenic Chromosome 2q32-q33 deletion syndrome, Chromosome 2q32-q33 deletion syndrome
RS863224919 SETX Health Risk Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS863224921 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Nicolaides-Baraitser syndrome
RS863224922 SMARCA2 Health Risk Likely pathogenic Nicolaides-Baraitser syndrome, Intellectual disability
RS863224923 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS863224925 SUFU Health Risk Pathogenic Medulloblastoma, Medulloblastoma
RS863224926 SURF1 Health Risk Likely pathogenic Leigh syndrome, Leigh syndrome
RS863224929 SYNE1 Health Risk Likely pathogenic Autosomal recessive ataxia, Beauce type
RS863224930 SYNGAP1 Health Risk Pathogenic Intellectual disability, autosomal dominant 5
RS863224933 TCAP Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2G, Autosomal recessive limb-girdle muscular dystrophy type 2G
RS863224934 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS863224935 TGFBR2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 2, Familial thoracic aortic aneurysm and aortic dissection
RS863224936 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS863224937 TTN Health Risk Likely pathogenic —
RS863224938 TUBA1A Health Risk Pathogenic Lissencephaly due to TUBA1A mutation, Tubulinopathy
RS863224939 TUBB2A Health Risk Conflicting classifications of pathogenicity Complex cortical dysplasia with other brain malformations 5, Seizure
RS863224940 UBE3A Health Risk Likely pathogenic Angelman syndrome, Angelman syndrome
RS863224941 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinal dystrophy
RS863224942 ZEB2 Health Risk Likely pathogenic Mowat-Wilson syndrome, Mowat-Wilson syndrome
RS863224945 ALDH18A1 Health Risk Pathogenic Hereditary spastic paraplegia 9A, Autosomal dominant spastic paraplegia type 9
RS863224946 PDGFRB Health Risk Pathogenic Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome, Myeloproliferative disorder
RS863224947 OLFML2B Health Risk Likely pathogenic —
RS863224948 OLFML2B Health Risk Likely pathogenic —
RS863224950 OLFML2B Health Risk Likely pathogenic —
RS863224956 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS863224957 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS863224958 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature
RS863224959 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature
RS863224960 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS863224961 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Abnormality of the musculature
RS863224962 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS863224963 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS863224964 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS863224965 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS863224966 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS863224967 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Hereditary motor and sensory neuropathy with optic atrophy
RS863224968 MFN2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS863224969 MFN2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS863224970 MFN2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2A2, Charcot-Marie-Tooth disease type 2
RS863224971 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS863224972 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS863224973 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS863224974 GJB1 Health Risk Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Inborn genetic diseases
RS863224975 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224976 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224977 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224978 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224979 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224980 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224981 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224982 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224983 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224984 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224985 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224986 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224987 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224988 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS863224989 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224990 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224991 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224992 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224993 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224994 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224995 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224996 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224997 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224998 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863224999 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS863225000 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225001 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS863225002 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225003 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, See cases
RS863225004 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225005 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225006 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225007 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225008 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225009 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225010 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS863225011 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS863225012 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS863225013 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dystrophin deficiency
RS863225014 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS863225015 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS863225016 DMD Health Risk Pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
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