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
RS759150629 FRAS1 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 1, Fraser syndrome 1
RS759151952 PMS2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759152941 ABCG8 Health Risk Conflicting classifications of pathogenicity —
RS759153401 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 8
RS759153754 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, COL11A1-related disorder
RS759154562 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS759155182 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS759156564 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS759156674 POMT1 Health Risk Likely pathogenic —
RS759157268 PCDH12 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759157320 SLC25A19 Health Risk Likely pathogenic —
RS759157781 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, variant AB
RS759158029 TONSL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759158371 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS759159766 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS759161435 CASK Health Risk Conflicting classifications of pathogenicity Intellectual disability, CASK-related
RS759162614 DLG3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 90
RS759162929 ZFYVE26 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS759163666 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS759163719 TAP1 Health Risk Likely pathogenic MHC class I deficiency, MHC class I deficiency
RS759166250 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS759166720 VSX2 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS759166886 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS759167480 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Inborn genetic diseases
RS759168672 TFG Health Risk Conflicting classifications of pathogenicity Hereditary motor and sensory neuropathy, Okinawa type
RS759170743 CEP290 Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Nephronophthisis
RS759171140 TG Health Risk Pathogenic —
RS759171890 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS759172833 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS759173369 TYMP Health Risk Conflicting classifications of pathogenicity —
RS759173740 PITRM1 Health Risk Conflicting classifications of pathogenicity —
RS759174401 AP3B1 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 2, Hermansky-Pudlak syndrome 2
RS759174628 OTOGL Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 84B
RS759174655 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS759175039 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS759176072 MSN Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759177869 ASAH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS759178574 CYP11B2 Health Risk Likely pathogenic Familial hypoaldosteronism, Familial hypoaldosteronism
RS759178651 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS759179999 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS759181295 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS759181823 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS759183382 PEX1 Health Risk Likely pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS759183489 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS759183842 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS759184240 IMPG2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS759184281 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS759185809 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS759185877 CP Health Risk Conflicting classifications of pathogenicity Deficiency of ferroxidase, Deficiency of ferroxidase
RS759186574 DRC2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 27, Respiratory ciliopathies including non-CF bronchiectasis
RS759186986 SLX4 Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS759187140 PGM3 Health Risk Pathogenic Immunodeficiency 23, PGM3-related disorder
RS759187261 PCDH15 Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1F, Autosomal recessive nonsyndromic hearing loss 23
RS759187844 NSUN2 Health Risk Conflicting classifications of pathogenicity —
RS759187934 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
RS759188041 CPAP Health Risk Pathogenic Perisylvian polymicrogyria, Lissencephaly type 3
RS759188441 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS759188647 MMACHC Health Risk Pathogenic Cobalamin C disease, Cobalamin C disease
RS759189611 CDK5RAP2 Health Risk Likely pathogenic —
RS759190203 GCM2 Health Risk Pathogenic —
RS759190964 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS759192059 CC2D2A Health Risk Pathogenic/Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS759192320 DHCR7 Health Risk Conflicting classifications of pathogenicity Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS759192470 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS759192785 SPTA1 Health Risk Conflicting classifications of pathogenicity Pyropoikilocytosis, hereditary
RS759192836 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS759193940 NPHP1 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS759195065 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Inborn genetic diseases
RS759198908 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS759199684 VARS2 Health Risk Likely pathogenic —
RS759201321 KCNH1 Health Risk Conflicting classifications of pathogenicity —
RS759201338 CDC14A Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 32, Autosomal recessive nonsyndromic hearing loss 32
RS759201450 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS759201960 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Inborn genetic diseases
RS759202535 VCL Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Dilated cardiomyopathy 1W
RS759202870 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS759202962 ABCB4 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Low phospholipid associated cholelithiasis
RS759203240 ABAT Health Risk Conflicting classifications of pathogenicity Gamma-aminobutyric acid transaminase deficiency, Gamma-aminobutyric acid transaminase deficiency
RS759203841 CUBN Health Risk Pathogenic Proteinuria, chronic benign
RS759204703 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS759204814 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS759205757 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS759206588 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Inborn genetic diseases
RS759207947 CDH1 Health Risk Likely pathogenic Cleft lip with or without cleft palate, Cleft lip with or without cleft palate
RS759208930 CYP27B1 Health Risk Likely pathogenic CYP27B1-related disorder, Vitamin D-dependent rickets
RS759209452 PIGP Health Risk Conflicting classifications of pathogenicity —
RS759209767 ACAN Health Risk Pathogenic —
RS759210335 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS759212541 PLEKHG5 Health Risk Pathogenic/Likely pathogenic Neuronopathy, distal hereditary motor
RS759212867 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS759213174 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS759213352 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS759213580 CD151 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 7, with nephropathy and deafness
RS759213760 COL9A3 Health Risk Likely pathogenic —
RS759213871 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS759213872 ODAD3 Health Risk Pathogenic Primary ciliary dyskinesia 30, Primary ciliary dyskinesia 30
RS759214956 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Classic or attenuated familial adenomatous polyposis
RS759215669 ARID1A Health Risk Conflicting classifications of pathogenicity —
RS759215923 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS759216802 PDGFRB Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
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