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
RS2148753634 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148753664 SPAST Health Risk Likely pathogenic SPAST-related spastic paraplegia, SPAST-related spastic paraplegia
RS2148753672 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148753700 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148753724 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS2148753725 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148753950 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148753955 SPAST Health Risk Pathogenic —
RS2148753960 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148753972 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148753986 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148754018 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148754032 SPAST Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148754064 SPAST Health Risk Likely pathogenic —
RS2148754101 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148754345 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148754355 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148754376 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148754411 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148755274 XDH Health Risk Likely pathogenic Xanthinuria type II, Xanthinuria type II
RS2148757954 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS2148758232 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148758241 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148758252 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759354 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759370 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759388 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759400 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759407 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759412 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759447 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759471 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759473 SPAST Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148759485 SPAST Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148759614 DEPDC5 Health Risk Conflicting classifications of pathogenicity Seizure, Familial focal epilepsy with variable foci
RS2148760797 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148760843 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148760886 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148762766 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148762771 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148762787 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148762802 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148762813 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148769272 SPAST Health Risk Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148769284 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148769324 SPAST Health Risk Pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS2148769328 SPAST Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 4
RS2148769396 SPAST Health Risk Pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2148770984 MECP2 Health Risk Pathogenic X-linked intellectual disability-psychosis-macroorchidism syndrome, X-linked intellectual disability-psychosis-macroorchidism syndrome
RS2148776171 XDH Health Risk Pathogenic Xanthinuria type II, Xanthinuria type II
RS2148780504 THRB Health Risk Likely pathogenic Thyroid hormone resistance, generalized
RS2148780678 THRB Health Risk Conflicting classifications of pathogenicity Thyroid hormone resistance, generalized
RS2148785084 LARGE1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy type B6
RS2148787747 OPN1MW Health Risk Pathogenic Achromatopsia, Achromatopsia
RS2148789775 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2148795145 KATNB1 Health Risk Pathogenic —
RS2148797038 DMD Health Risk Likely pathogenic —
RS2148797581 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148797710 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2148801285 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2148801432 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2148801562 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148802008 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148803919 DMD Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2148804513 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2148805010 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148805769 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2148805788 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148805979 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148806096 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148806453 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS2148807197 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148807456 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148807584 DMD Health Risk Pathogenic Becker muscular dystrophy, Cardiomyopathy
RS2148807631 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148807654 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148807947 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148812748 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2148813707 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2148815189 PLK4 Health Risk Pathogenic —
RS2148816212 PLK4 Health Risk Pathogenic —
RS2148818274 PLK4 Health Risk Pathogenic —
RS2148821385 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148821952 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2148823766 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2148823868 ANKRD17 Health Risk Pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2148830445 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2148832538 ANKRD17 Health Risk Likely pathogenic —
RS2148833747 THRB Health Risk Conflicting classifications of pathogenicity —
RS2148834585 THRB Health Risk Likely pathogenic —
RS2148837121 MFSD8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148837137 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148837382 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148839459 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148839909 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148839960 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148840216 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Late-infantile neuronal ceroid lipofuscinosis
RS2148840396 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148840426 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
RS2148840973 MFSD8 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 7, Neuronal ceroid lipofuscinosis 7
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