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
RS771254387 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS771255106 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771256529 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS771256761 SPG7 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS771257070 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS771257647 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS771257822 CRB1 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS771257931 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS771257968 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lymphatic malformation 6
RS771258750 MBTPS1 Health Risk Pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS771258854 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS771259156 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS771259264 APOA2 Health Risk Pathogenic APOLIPOPROTEIN A-II DEFICIENCY, APOLIPOPROTEIN A-II DEFICIENCY
RS771259493 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS771259513 PRKN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771260365 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS771260546 ACTN2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1AA
RS771260695 FBN1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Marfan syndrome
RS771260711 CHRNA1 Health Risk Likely pathogenic Lethal multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS771261883 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS771262904 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS771263285 KCNQ5 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Inborn genetic diseases
RS771263913 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS771264157 TFR2 Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 3, Hereditary hemochromatosis
RS771264491 STRC Health Risk Pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 16
RS771264753 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS771264933 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Inborn genetic diseases
RS771266203 PIGN Health Risk Conflicting classifications of pathogenicity Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS771266705 CEP290 Health Risk Pathogenic Bardet-Biedl syndrome 14, Meckel-Gruber syndrome
RS771266745 ADA Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS771266951 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS771267153 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Hypogonadotropic hypogonadism 5 with or without anosmia
RS771267651 LIG3 Health Risk Pathogenic Mitochondrial DNA depletion syndrome 20 (mngie type), Mitochondrial DNA depletion syndrome 20 (mngie type)
RS771267741 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS771268293 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS771268520 OPTN Health Risk Pathogenic Primary open angle glaucoma, Glaucoma 1
RS771268967 MAF Health Risk Conflicting classifications of pathogenicity Cataract 21 multiple types, Ayme-Gripp syndrome
RS771269271 THPO Health Risk Likely pathogenic Thrombocythemia 1, Thrombocythemia 1
RS771270249 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS771271907 TCIRG1 Health Risk Likely pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS771271966 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771272439 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Renal cell carcinoma
RS771272478 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771273638 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS771275914 HARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771275997 NLGN3 Health Risk Conflicting classifications of pathogenicity NLGN3-related disorder, NLGN3-related disorder
RS771277349 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS771279169 USH1C Health Risk Pathogenic Usher syndrome type 1C, Autosomal recessive nonsyndromic hearing loss 18A
RS771280075 TOR1AIP1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2Y, Autosomal recessive limb-girdle muscular dystrophy type 2Y
RS771281023 SMARCE1 Health Risk Conflicting classifications of pathogenicity Familial meningioma, Hereditary cancer-predisposing syndrome
RS771281472 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS771282785 KCNQ2 Health Risk Pathogenic —
RS771284532 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771286283 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS771286329 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS771287738 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS771288520 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS771289256 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Tuberous sclerosis syndrome
RS771290019 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS771290763 ERCC6 Health Risk Likely pathogenic —
RS771292782 CIT Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS771292799 MYBPC3 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 10, Hypertrophic cardiomyopathy 4
RS771293688 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Arrhythmogenic right ventricular cardiomyopathy
RS771293885 FANCI Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS771294359 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Catecholaminergic polymorphic ventricular tachycardia
RS771294425 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Charcot-Marie-Tooth disease
RS771294438 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Inborn genetic diseases
RS771294848 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS771295943 LPIN2 Health Risk Pathogenic Majeed syndrome, Majeed syndrome
RS771296302 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771296632 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS771297371 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS771297840 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS771298370 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS771298943 CBS Health Risk Pathogenic Classic homocystinuria, Homocystinuria
RS771299009 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS771300095 PIEZO2 Health Risk Likely pathogenic Arthrogryposis, distal
RS771300756 MYH3 Health Risk Conflicting classifications of pathogenicity Spondylocarpotarsal synostosis syndrome, Contractures
RS771301027 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS771302691 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS771302849 USF3 Health Risk Conflicting classifications of pathogenicity —
RS771303478 ABCB4 Health Risk Conflicting classifications of pathogenicity —
RS771305669 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS771305734 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS771306571 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS771308343 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS771308672 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS77130927 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS771310512 TWNK Health Risk Conflicting classifications of pathogenicity Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS771310592 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS771311008 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS771311186 SLC39A7 Health Risk Pathogenic Agammaglobulinemia 9, autosomal recessive
RS771311951 KMT2C Health Risk Conflicting classifications of pathogenicity —
RS771312042 FANCI Health Risk Pathogenic/Likely pathogenic Fanconi anemia, FANCI-related disorder
RS771312858 CEP164 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS771312947 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS771314646 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS771315757 EIF2B2 Health Risk Pathogenic EIF2B2-related disorder, EIF2B2-related disorder
RS771316323 MITF Health Risk Conflicting classifications of pathogenicity MITF-related disorder, Melanoma
RS771316696 OPTN Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 12, Primary open angle glaucoma
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