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
RS768362387 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS768363495 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS768363883 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768364364 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS768364752 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS768365250 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS768366163 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS768366199 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS768366293 AR Health Risk Likely pathogenic Androgen resistance syndrome, Androgen resistance syndrome
RS768366852 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS768366890 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS768367348 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS768369360 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Danon disease
RS768370188 MSH2 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS768372697 ALG6 Health Risk Conflicting classifications of pathogenicity ALG6-congenital disorder of glycosylation 1C, Inborn genetic diseases
RS768373757 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS768374513 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768374736 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy
RS768375513 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS768377977 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS768377981 TYRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768378152 NBN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly
RS768379279 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS768380281 EVC2 Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS768380865 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, Congenital ichthyosis of skin
RS768380909 EIF2B1 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS768380959 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group A, Fanconi anemia
RS768381482 COL4A1 Health Risk Conflicting classifications of pathogenicity —
RS768382177 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome 9, Meckel syndrome
RS768382383 SCN3A Health Risk Conflicting classifications of pathogenicity SCN3A-related disorder, Inborn genetic diseases
RS768382989 COL4A5 Health Risk Likely pathogenic —
RS768384031 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS768384746 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Immunodeficiency 31B
RS768385200 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS768385469 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS768385647 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS768386527 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS768387283 LCA5 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS768388576 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS768389044 LRAT Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 14, Retinitis pigmentosa
RS768389398 DBT Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 2
RS768389941 DSC2 Health Risk Pathogenic Arrhythmogenic right ventricular dysplasia 11, Arrhythmogenic right ventricular dysplasia 11
RS768390615 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Early-onset myopathy with fatal cardiomyopathy
RS768390701 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS768390959 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS768390987 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS768391524 PKD1 Health Risk Likely pathogenic PKD1-related disorder, PKD1-related disorder
RS768391679 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS768393069 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 1, MYH7-related skeletal myopathy
RS768393994 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP4-related disorder
RS768394647 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS768394710 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS768395332 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic Ectopia lentis et pupillae, Ectopia lentis et pupillae
RS768396351 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS768396766 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768396832 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases
RS768397005 RTEL1 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 5
RS768397968 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS768398267 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS768398792 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS768399493 ALG12 Health Risk Pathogenic ALG12-congenital disorder of glycosylation, ALG12-congenital disorder of glycosylation
RS768400804 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS768400824 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS768401130 ACTB Health Risk Likely pathogenic —
RS768401297 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS768402359 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS768403673 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS768404575 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS768404745 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS768404895 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS768405270 PRKCSH Health Risk Conflicting classifications of pathogenicity See cases, Polycystic liver disease 1
RS768406797 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS768407445 MFN2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 2
RS768407867 CHRNA1 Health Risk Pathogenic/Likely pathogenic Lethal multiple pterygium syndrome, Autism
RS768408345 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS768409400 F11 Health Risk Pathogenic/Likely pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS76840944 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS768409471 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi Goutieres syndrome
RS76841036 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, MLYCD-related disorder
RS768410753 ELMO2 Health Risk Pathogenic Primary intraosseous venous malformation, Primary intraosseous venous malformation
RS768411190 CFI Health Risk Pathogenic —
RS768411839 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Lysosomal acid lipase deficiency
RS768412278 TMEM67 Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS768412428 AARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2N, Inborn genetic diseases
RS768412580 PIGN Health Risk Pathogenic/Likely pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS768413178 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS768413190 PROK2 Health Risk Conflicting classifications of pathogenicity Hypogonadotropic hypogonadism 4 with or without anosmia, PROK2-related disorder
RS768414125 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS768414501 CTRC Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS768415627 COL17A1 Health Risk Pathogenic Epithelial recurrent erosion dystrophy, Epithelial recurrent erosion dystrophy
RS768415785 LAMA3 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS768416164 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768416381 DPAGT1 Health Risk Pathogenic/Likely pathogenic Abnormality of metabolism/homeostasis, Congenital myasthenic syndrome 13
RS768417678 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS768418058 MITF Health Risk Conflicting classifications of pathogenicity MITF-related disorder, Melanoma
RS768418644 RXYLT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768418736 MYO7A Health Risk Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS768419250 MYPN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1KK
RS768420045 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS768420468 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
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