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
RS771891040 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS771891225 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS771893039 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
RS771894262 RMND1 Health Risk Likely pathogenic Mitochondrial disease, Combined oxidative phosphorylation defect type 11
RS771895449 STAR Health Risk Pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency, Congenital lipoid adrenal hyperplasia due to STAR deficency
RS771896253 F11 Health Risk Pathogenic Hereditary factor XI deficiency disease, Hereditary factor XI deficiency disease
RS771896529 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal recessive nonsyndromic hearing loss 2
RS771897813 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS771898125 BEST1 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS771898264 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771898973 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS771899820 NOTCH3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771900045 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive distal spinal muscular atrophy 1, Inborn genetic diseases
RS771900388 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS771903291 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS771903880 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771904218 LIPA Health Risk Conflicting classifications of pathogenicity Lysosomal acid lipase deficiency, Wolman disease
RS771905201 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS771905691 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, See cases
RS771906344 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 15, Spastic paraplegia
RS771906613 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS771907995 CDC73 Health Risk Pathogenic Parathyroid carcinoma, Parathyroid carcinoma
RS771908700 CYP11B2 Health Risk Pathogenic CYP11B2-related disorder, Corticosterone methyloxidase type 2 deficiency
RS771908927 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS771909114 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS771909122 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS771910503 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS771910669 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS771911380 CAD Health Risk Conflicting classifications of pathogenicity —
RS771913043 CDKN1B Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia type 4
RS771914413 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, SACS-related disorder
RS771914739 IVD Health Risk Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS771914973 CC2D2A Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Meckel-Gruber syndrome
RS771916272 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS771917370 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS771918127 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS771919907 KCNJ5 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 13, Hypertrophic cardiomyopathy
RS771920114 ODAD2 Health Risk Pathogenic Primary ciliary dyskinesia 23, Primary ciliary dyskinesia 23
RS771921490 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS771922681 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS771922933 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS771923322 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS771923409 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS771924230 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS771924434 KRT6C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771924569 USH2A Health Risk Likely pathogenic —
RS771925339 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS771925785 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS771925976 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771926427 CYBA Health Risk Pathogenic Granulomatous disease, chronic
RS771927358 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS771928911 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS771929085 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS771929217 IBA57 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS771929461 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS771929829 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS771929965 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS771930571 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS771930635 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS771932172 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS771932254 TAP2 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency
RS771933147 ATF6 Health Risk Likely pathogenic Achromatopsia 7, Achromatopsia 7
RS771934394 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS771935902 ERBB3 Health Risk Likely pathogenic ERBB3-related disorder, ERBB3-related disorder
RS771936735 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Inborn genetic diseases
RS771936821 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS771936944 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS771937001 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS771937584 DVL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771937610 ASS1 Health Risk Pathogenic/Likely pathogenic Citrullinemia, Citrullinemia type I
RS771939280 MTO1 Health Risk Pathogenic Inborn genetic diseases, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS771939468 CEP290 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 14, Joubert syndrome
RS771939956 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS771940904 SPG21 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Mast syndrome
RS771941278 FOXRED1 Health Risk Likely pathogenic —
RS771941481 LRP2 Health Risk Pathogenic —
RS771941657 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS771941724 COL6A3 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS771941764 ORC4 Health Risk Pathogenic —
RS771942676 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771943101 SDHD Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Pheochromocytoma/paraganglioma syndrome 1
RS771943305 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS771943519 COL4A4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome
RS771943685 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS771943943 FLNB Health Risk Conflicting classifications of pathogenicity —
RS771944310 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS771944316 COLQ Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS771945203 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS771945804 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS77194622 MAST4 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS771948271 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS771949207 PRKAR1A Health Risk Conflicting classifications of pathogenicity Carney complex, type 1
RS771949339 SCNN1A Health Risk Conflicting classifications of pathogenicity Bronchiectasis with or without elevated sweat chloride 2, SCNN1A-related disorder
RS771949417 CEP63 Health Risk Pathogenic —
RS771953225 MAN2B1 Health Risk Likely pathogenic Deficiency of alpha-mannosidase, Deficiency of alpha-mannosidase
RS771953692 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS771953930 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS771954272 NMNAT1 Health Risk Likely pathogenic Leber congenital amaurosis 9, Leber congenital amaurosis 9
RS771954824 NDUFAF5 Health Risk Conflicting classifications of pathogenicity —
RS771954896 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
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