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
RS751007903 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS751009381 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS751009684 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS751010108 OPA1 Health Risk Likely pathogenic —
RS751010317 CFHR5 Health Risk Conflicting classifications of pathogenicity CFHR5 deficiency, C3 glomerulonephritis
RS751010538 ARSB Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS751010909 RAD54L Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS751010917 DNAI1 Health Risk Conflicting classifications of pathogenicity Kartagener syndrome, Primary ciliary dyskinesia
RS751011809 HESX1 Health Risk Pathogenic —
RS751012843 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS751013211 KITLG Health Risk Pathogenic Waardenburg syndrome, IIa 2F
RS751015040 WRN Health Risk Likely pathogenic Werner syndrome, Werner syndrome
RS751015814 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS751018117 CRX Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Leber congenital amaurosis 7
RS751019991 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS751020218 SP110 Health Risk Pathogenic/Likely pathogenic Hepatic veno-occlusive disease-immunodeficiency syndrome, Mycobacterium tuberculosis
RS751020468 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS751020610 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS751021760 ASXL1 Health Risk Likely pathogenic —
RS751021793 COL4A3 Health Risk Pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS751022869 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, Inborn genetic diseases
RS751023085 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS751023453 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751023929 ACADS Health Risk Conflicting classifications of pathogenicity Deficiency of butyryl-CoA dehydrogenase, ACADS-related disorder
RS751024812 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS751025203 GLDC Health Risk Pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS751026014 FN1 Health Risk Conflicting classifications of pathogenicity Glomerulopathy with fibronectin deposits 2, Spondylometaphyseal dysplasia - Sutcliffe type
RS751026146 SPTA1 Health Risk Pathogenic/Likely pathogenic Hereditary spherocytosis type 3, Elliptocytosis 2
RS751026211 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, SKIC2-related disorder
RS751026400 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS751026615 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS751028884 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS751028917 F7 Health Risk Conflicting classifications of pathogenicity Congenital factor VII deficiency, Congenital factor VII deficiency
RS751029682 ADAMTS18 Health Risk Pathogenic —
RS751030250 DMD Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Duchenne muscular dystrophy
RS751030662 ADGRB2 Health Risk Conflicting classifications of pathogenicity —
RS751030969 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS751031560 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS751031650 DNA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA deletion syndrome with progressive myopathy, Mitochondrial DNA deletion syndrome with progressive myopathy
RS751033858 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS751033943 STAC3 Health Risk Conflicting classifications of pathogenicity Bailey-Bloch congenital myopathy, Bailey-Bloch congenital myopathy
RS751034120 TPK1 Health Risk Likely pathogenic Childhood encephalopathy due to thiamine pyrophosphokinase deficiency, Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
RS751035257 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS751035557 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Cone-rod dystrophy
RS751035912 FGD4 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS751036176 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS751036439 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS751036976 COG7 Health Risk Conflicting classifications of pathogenicity COG7 congenital disorder of glycosylation, Inborn genetic diseases
RS751037387 PNKP Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS751037529 PRKN Health Risk Pathogenic Autosomal recessive juvenile Parkinson disease 2, Autism spectrum disorder
RS751037617 LONP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751038432 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiomyopathy
RS751039219 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS751040357 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS751040647 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751041263 ACOX2 Health Risk Conflicting classifications of pathogenicity Congenital bile acid synthesis defect 6, Colorectal cancer
RS751041617 MYH9 Health Risk Conflicting classifications of pathogenicity —
RS751041684 NAA60 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS751041696 ALPK3 Health Risk Pathogenic Cardiovascular phenotype, Cardiomyopathy
RS751043203 ARID1B Health Risk Conflicting classifications of pathogenicity Microcephaly, Coffin-Siris syndrome 1
RS751044309 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS751045102 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS751045224 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4C, Congenital myasthenic syndrome 2A
RS751046231 TRAPPC2L Health Risk Conflicting classifications of pathogenicity Encephalopathy, progressive
RS751046263 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS751046389 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS751046687 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS751048080 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS751050235 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS751050956 CNTNAP1 Health Risk Pathogenic Lethal congenital contracture syndrome 7, Neuropathy
RS751050999 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiac arrhythmia
RS751051049 KIF1A Health Risk Likely pathogenic Hereditary spastic paraplegia 30, Neuropathy
RS751052489 LAMC2 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS751052593 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS751053813 DICER1 Health Risk Likely pathogenic —
RS751053826 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS751054856 VPS13C Health Risk Pathogenic —
RS751056551 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751058068 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder type 3B, Peroxisome biogenesis disorder 3A (Zellweger)
RS751058779 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS751059071 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS751059559 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751061681 ABCA3 Health Risk Pathogenic/Likely pathogenic Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS751061873 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS751062153 RAD51D Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS751062593 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS751062759 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Early-onset myopathy with fatal cardiomyopathy
RS751067479 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS751068848 LRPPRC Health Risk Likely pathogenic —
RS751068912 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy
RS751069468 SALL1 Health Risk Conflicting classifications of pathogenicity —
RS751069628 GFM1 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS751069999 CYP4V2 Health Risk Likely pathogenic —
RS751070095 LIG4 Health Risk Pathogenic/Likely pathogenic DNA ligase IV deficiency, Multiple myeloma
RS751071208 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS751071439 TOP3A Health Risk Likely pathogenic —
RS751071709 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS751072702 GRN Health Risk Conflicting classifications of pathogenicity GRN-related frontotemporal lobar degeneration with Tdp43 inclusions, Neuronal ceroid lipofuscinosis 11
RS751073426 WFS1 Health Risk Conflicting classifications of pathogenicity —
RS75107445 AEBP1 Health Risk Conflicting classifications of pathogenicity AEBP1-related disorder, AEBP1-related disorder
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