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
RS2148841110 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148841537 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148844303 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2148845188 STIL Health Risk Likely pathogenic —
RS2148846582 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Cardiomyopathy
RS2148849959 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148849982 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148850223 DMD Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2148850492 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148850505 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148850717 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2148850769 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148852029 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2148854716 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2148861371 TBC1D23 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia, type 11
RS2148863572 TBC1D23 Health Risk Pathogenic Pontocerebellar hypoplasia, type 11
RS2148864234 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148866261 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148866902 WDFY3 Health Risk Pathogenic —
RS2148873794 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148874807 PTCH2 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Basal cell carcinoma
RS2148890956 MECOM Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2148891008 MECOM Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2148891037 MECOM Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2148891074 MECOM Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2148894604 THRB Health Risk Pathogenic —
RS2148897874 SEC23B Health Risk Pathogenic —
RS2148907184 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148917380 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2148922004 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148924638 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148926458 SP110 Health Risk Pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Hepatic veno-occlusive disease-immunodeficiency syndrome
RS2148942481 NLRC4 Health Risk Conflicting classifications of pathogenicity Periodic fever-infantile enterocolitis-autoinflammatory syndrome, Familial cold autoinflammatory syndrome 4
RS2148942588 NLRC4 Health Risk Pathogenic Familial cold autoinflammatory syndrome 4, Familial cold autoinflammatory syndrome 4
RS2148943607 MFSD8 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148947240 MECOM Health Risk Pathogenic Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, Radioulnar synostosis with amegakaryocytic thrombocytopenia 2
RS2148949901 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2148951277 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2148952560 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148952714 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148953095 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148953333 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148953712 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2148959323 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148959539 LIPH Health Risk Pathogenic Hypotrichosis 7, Hypotrichosis 7
RS2148959744 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148960027 MYT1L Health Risk Likely pathogenic —
RS2148960326 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148968418 DEPDC5 Health Risk Pathogenic/Likely pathogenic SUDDEN INFANT DEATH SYNDROME, SUDDEN INFANT DEATH SYNDROME
RS2148968890 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148968909 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148972564 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148972962 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148981349 MED12L Health Risk Conflicting classifications of pathogenicity Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS2148982295 UROD Health Risk Likely pathogenic —
RS2148982720 UROD Health Risk Pathogenic —
RS2148982736 UROD Health Risk Likely pathogenic —
RS2148982945 UROD Health Risk Likely pathogenic Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS2148983625 UROD Health Risk Pathogenic/Likely pathogenic —
RS2148984206 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148984299 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148984775 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148988855 WDFY3 Health Risk Pathogenic —
RS2149004143 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149008270 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149008450 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149009008 MFSD8 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2149009371 DEPDC5 Health Risk Pathogenic —
RS2149009589 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149014816 DMD Health Risk Pathogenic Intermediate muscular dystrophy, Intermediate muscular dystrophy
RS2149015246 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149015335 GJA8 Health Risk Likely pathogenic Developmental cataract, Cataract 1 multiple types
RS2149015418 GJA8 Health Risk Pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS2149015482 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS2149015516 GJA8 Health Risk Likely pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS2149015656 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149015763 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149015783 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149015924 GJA8 Health Risk Conflicting classifications of pathogenicity Developmental cataract, Cataract 1 multiple types
RS2149016192 MYT1L Health Risk Pathogenic Neurodevelopmental disorder, Intellectual disability
RS2149017828 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149017839 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149017840 MAGT1 Health Risk Likely pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149017933 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149018065 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149018213 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149018217 MAGT1 Health Risk Conflicting classifications of pathogenicity X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149018402 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149018410 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149018425 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149018434 MAGT1 Health Risk Pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149018666 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149024046 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149024566 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149024925 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149025148 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2149031468 MAGT1 Health Risk Likely pathogenic X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
RS2149033494 EXOSC9 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1D
RS2149039042 ITGA6 Health Risk Pathogenic Epidermolysis bullosa, junctional 6
RS2149039114 EXOSC9 Health Risk Pathogenic —
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