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
RS536009604 MYOZ2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS536017829 SCLT1 Health Risk Conflicting classifications of pathogenicity SCLT1-related disorder, SCLT1-related disorder
RS536023117 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypophosphatemic rickets, autosomal recessive
RS536037366 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS536038262 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS536042715 COLQ Health Risk Pathogenic Congenital myasthenic syndrome 5, Congenital myasthenic syndrome 5
RS536050342 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS536069799 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Hereditary sensory neuropathy-deafness-dementia syndrome
RS536078303 TTN Health Risk Conflicting classifications of pathogenicity Familial restrictive cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS536080941 RYR2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 2, Cardiomyopathy
RS536081800 ABCG5 Health Risk Conflicting classifications of pathogenicity Sitosterolemia, Sitosterolemia 2
RS536099586 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 22, Autosomal recessive nonsyndromic hearing loss 37
RS536100209 ADAR Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 6, Symmetrical dyschromatosis of extremities
RS536103220 DAP3 Health Risk Pathogenic/Likely pathogenic Perrault syndrome 1, Perrault syndrome 7
RS536104796 ABCC2 Health Risk Conflicting classifications of pathogenicity Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS536111818 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS536117380 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome
RS536121075 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant cerebellar ataxia, Charcot-Marie-Tooth disease axonal type 2O
RS536128206 LCT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS536131729 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Occult macular dystrophy
RS536140679 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3
RS536142838 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS536145925 GLI2 Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 9, Holoprosencephaly 9
RS536148030 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS536150588 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS536161084 PROM1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Stargardt disease 4
RS536167222 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS536177240 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS536179160 KCNK3 Health Risk Conflicting classifications of pathogenicity Pulmonary hypertension, primary
RS536180346 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS536181491 TYK2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency 35, Inborn genetic diseases
RS536181987 FGFR2 Health Risk Conflicting classifications of pathogenicity FGFR2-related craniosynostosis, Inborn genetic diseases
RS536186088 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS536187488 SCNN1B Health Risk Pathogenic/Likely pathogenic Pseudohypoaldosteronism, type IB2
RS536197277 SDHC Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Pheochromocytoma/paraganglioma syndrome 3
RS536201841 PDE6A Health Risk Pathogenic —
RS536205988 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS536223189 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hepatocellular carcinoma
RS536227878 OBSCN Health Risk Conflicting classifications of pathogenicity Rhabdomyolysis, susceptibility to
RS536235994 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS536238004 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS536239840 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Somatotroph adenoma
RS536239913 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Hepatocellular carcinoma
RS536249722 FLCN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Birt-Hogg-Dube syndrome
RS536252273 VCAN Health Risk Conflicting classifications of pathogenicity VCAN-related disorder, Inborn genetic diseases
RS536254357 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Inborn genetic diseases
RS536257863 GGCX Health Risk Conflicting classifications of pathogenicity Vitamin K-dependent clotting factors, combined deficiency of
RS536258085 NSUN2 Health Risk Conflicting classifications of pathogenicity —
RS536268706 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS536279890 ADAM9 Health Risk Conflicting classifications of pathogenicity —
RS536284304 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS536289395 VANGL1 Health Risk Conflicting classifications of pathogenicity Sacral defect with anterior meningocele, Neural tube defect
RS536289991 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS536297856 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS536298339 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS536301499 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Deficiency of acetyl-CoA acetyltransferase
RS536304635 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS536317935 ASPM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS536326964 MRAS Health Risk Conflicting classifications of pathogenicity —
RS536328437 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS536331212 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS536334280 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS536335712 CNGA3 Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia
RS536344946 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS536348835 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS536352238 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS536354947 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS536357058 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS536357517 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS536369260 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS536370523 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS536382000 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS536390950 F12 Health Risk Conflicting classifications of pathogenicity Factor XII deficiency disease, Hereditary angioedema type 3
RS536394774 DHCR7 Health Risk Pathogenic/Likely pathogenic Smith-Lemli-Opitz syndrome, Smith-Lemli-Opitz syndrome
RS536400690 FOXRED1 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 19
RS536428525 COL11A1 Health Risk Conflicting classifications of pathogenicity COL11A1-related disorder, Inborn genetic diseases
RS536434931 PITPNM3 Health Risk Conflicting classifications of pathogenicity —
RS536440590 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS536445081 MYL3 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS536446862 ALOX12B Health Risk Pathogenic Autosomal recessive congenital ichthyosis 2, Autosomal recessive congenital ichthyosis 2
RS536452909 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS536455406 RTN4IP1 Health Risk Pathogenic —
RS536461045 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Orofaciodigital syndrome type 6
RS536465380 VCAN Health Risk Conflicting classifications of pathogenicity Wagner disease, Vitreoretinopathy
RS536467012 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS536476533 ACTG1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 20, Baraitser-winter syndrome 2
RS536487449 HSD17B4 Health Risk Conflicting classifications of pathogenicity Perrault syndrome 1, Bifunctional peroxisomal enzyme deficiency
RS536493402 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS536496690 CNGA3 Health Risk Conflicting classifications of pathogenicity CNGA3-related retinopathy, CNGA3-related retinopathy
RS536499962 NDUFA11 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
RS536502106 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS536503540 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS536508664 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS536509445 TCOF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Treacher Collins syndrome 1
RS536513156 PLD1 Health Risk Conflicting classifications of pathogenicity Cardiac valvular defect, developmental
RS536513593 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS536518032 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS536518140 NPHS1 Health Risk Conflicting classifications of pathogenicity Congenital nephrotic syndrome, Congenital nephrotic syndrome
RS536522307 FANCI;POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Fanconi anemia complementation group I
RS536522394 MPO Health Risk Pathogenic/Likely pathogenic Myeloperoxidase deficiency, MPO-related disorder
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