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
RS1692739694 CNGA3 Health Risk Pathogenic —
RS1692740329 CNGA3 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1692797868 CNGA3 Health Risk Likely pathogenic —
RS1692799480 CNGA3 Health Risk Pathogenic Cone dystrophy, Cone dystrophy
RS1692819940 CUL3 Health Risk Pathogenic —
RS1692821181 CUL3 Health Risk Likely pathogenic —
RS1692821396 CUL3 Health Risk Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1692824104 CUL3 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1692862061 TTN Health Risk Likely pathogenic —
RS1692866593 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1692870117 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1692870573 ABCB11 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1692873873 SCN1A Health Risk Pathogenic Seizure, Early-infantile DEE
RS1692876152 STAT1 Health Risk Likely pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1692878257 SCN1A Health Risk Pathogenic —
RS1692895957 LOC102724058;SCN1A Health Risk Pathogenic —
RS1692898861 CNGA3 Health Risk Pathogenic Achromatopsia, Achromatopsia
RS1692904914 CNGA3 Health Risk Pathogenic/Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1692905818 SCN1A Health Risk Conflicting classifications of pathogenicity Generalized epilepsy with febrile seizures plus, type 2
RS1692906608 CNGA3 Health Risk Likely pathogenic —
RS1692907593 CNGA3 Health Risk Pathogenic —
RS1692911763 CNGA3 Health Risk Likely pathogenic —
RS1692914478 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1692915919 CNGA3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1692916541 CNGA3 Health Risk Likely pathogenic Achromatopsia 2, Achromatopsia 2
RS1692918950 CNGA3 Health Risk Pathogenic —
RS1692920727 CUL3 Health Risk Pathogenic Pseudohypoaldosteronism type 2E, Pseudohypoaldosteronism type 2E
RS1692921014 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS1692928194 CNGA3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1692930941 CNGA3 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1692932180 CNGA3 Health Risk Likely pathogenic —
RS1692935801 CNGA3 Health Risk Pathogenic —
RS16929375 CDH23 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 12, Usher syndrome type 1D
RS1692945934 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS1693019491 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1693032325 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1693042024 BARD1 Health Risk Pathogenic Familial cancer of breast, Malignant tumor of breast
RS1693044156 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1693048371 FANCL Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group L
RS1693074467 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1693089850 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1693089932 BARD1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1693164213 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS1693173657 ALS2 Health Risk Pathogenic —
RS1693176153 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1693198121 ABCB11 Health Risk Pathogenic/Likely pathogenic Familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1693198997 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1693228350 AGPAT2 Health Risk Pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1693267402 RYR2 Health Risk Likely pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1693309648 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1693333622 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1693383784 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1693396597 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1693432220 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS1693433379 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia
RS1693439048 FANCD2 Health Risk Pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1693439187 FANCD2 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group D2
RS1693462968 ALS2 Health Risk Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1693467305 ABCB11 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis
RS1693477912 ABCB11 Health Risk Pathogenic —
RS1693501054 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1693504040 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1693509336 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1693517014 ABCB11 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 2, Benign recurrent intrahepatic cholestasis type 2
RS1693519718 ABCB11 Health Risk Pathogenic —
RS1693554666 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1693556617 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1693559368 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1693577284 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1693604030 ABCB11 Health Risk Likely pathogenic —
RS1693624356 SPEG Health Risk Likely pathogenic Myopathy, centronuclear
RS1693633153 FANCD2 Health Risk Pathogenic —
RS1693635796 FANCD2 Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1693682030 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS1693689203 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1693691531 SCN1A-AS1;SCN9A Health Risk Pathogenic —
RS1693718752 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1693726956 ALS2 Health Risk Conflicting classifications of pathogenicity Infantile-onset ascending hereditary spastic paralysis, ALS2-related disorder
RS1693746784 SPEG Health Risk Likely pathogenic —
RS1693751220 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1693752377 STAT1 Health Risk Likely pathogenic Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS1693752801 STAT1 Health Risk Likely pathogenic Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, Immunodeficiency 31B
RS1693769972 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS1693780539 ALS2 Health Risk Pathogenic Juvenile primary lateral sclerosis, Juvenile primary lateral sclerosis
RS1693892555 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1693893975 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1693919240 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1693994454 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1693996119 STAT1 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 31B, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS1694058443 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694058662 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694059874 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694062061 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694065388 SLC4A10 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities
RS16941 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1694125419 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS1694160600 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS1694168766 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS16942 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1694228284 SATB1 Health Risk Pathogenic Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
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