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
RS368386019 LMNA Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy, Cardiovascular phenotype
RS368386747 SRD5A2 Health Risk Pathogenic 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency, 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency
RS368387447 BEST1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, BEST1-related disorder
RS368388249 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS368389717 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS368389807 KRT3 Health Risk Conflicting classifications of pathogenicity —
RS368391322 LAMC2 Health Risk Pathogenic —
RS368391537 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS368391882 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS368393738 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS368394856 SIX5 Health Risk Conflicting classifications of pathogenicity Branchiootorenal syndrome 2, Branchiootorenal syndrome 2
RS368394921 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS368395113 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS368395413 MUSK Health Risk Pathogenic Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 9
RS368396893 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS368399096 DNAJC21 Health Risk Conflicting classifications of pathogenicity Bone marrow failure syndrome 3, DNAJC21-related disorder
RS368399893 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS368402544 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, MOCS1-related disorder
RS368404583 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS368404711 COL4A4 Health Risk Conflicting classifications of pathogenicity COL4A4-related disorder, Hematuria
RS368404774 FRMD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368406121 PDE1C Health Risk Likely pathogenic Hearing loss, autosomal dominant 74
RS368406599 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS368406915 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Inborn genetic diseases
RS368408857 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, ANKRD26-related disorder
RS368409665 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS368409902 PRDM16 Health Risk Conflicting classifications of pathogenicity Left ventricular noncompaction 8, Left ventricular noncompaction 8
RS368411705 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Inborn genetic diseases
RS368412428 ATP6V1B2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS368412850 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS368413787 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS368414819 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS368415251 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368416287 MYO18B Health Risk Pathogenic —
RS368417648 CYP7A1 Health Risk Conflicting classifications of pathogenicity CYP7A1-related disorder, CYP7A1-related disorder
RS368417828 PTCH1 Health Risk Conflicting classifications of pathogenicity Anophthalmia-microphthalmia syndrome, Gorlin syndrome
RS368418234 HOGA1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Primary hyperoxaluria type 3
RS368419322 ABCC8 Health Risk Conflicting classifications of pathogenicity Hereditary hyperinsulinism, Maturity-onset diabetes of the young
RS368419459 STING1 Health Risk Conflicting classifications of pathogenicity STING-associated vasculopathy with onset in infancy, Inborn genetic diseases
RS368420323 ARID1B Health Risk Conflicting classifications of pathogenicity Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS368420512 ADGRV1 Health Risk Conflicting classifications of pathogenicity ADGRV1-related disorder, Inborn genetic diseases
RS368421264 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS368421766 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS368422520 FANCE Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group E, Fanconi anemia
RS368422725 COL11A1 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Connective tissue disorder
RS368422761 DOCK7 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 23
RS368422942 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS368423685 ATP13A2 Health Risk Conflicting classifications of pathogenicity Kufor-Rakeb syndrome, Autosomal recessive spastic paraplegia type 78
RS368423941 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368425364 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS368425406 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS368426208 PLCE1 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 3
RS368426715 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS368427062 AMACR Health Risk Conflicting classifications of pathogenicity Alpha-methylacyl-CoA racemase deficiency, AMACR-related disorder
RS368427156 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368427726 ALDH7A1 Health Risk Conflicting classifications of pathogenicity Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
RS368428119 PLXNB3 Health Risk Conflicting classifications of pathogenicity —
RS368428323 FN1 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, Inborn genetic diseases
RS368431013 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS368432468 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS368433503 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, Alpha-1-antitrypsin deficiency
RS368433666 ADPRS Health Risk Likely pathogenic Neurodegeneration, childhood-onset
RS368433841 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Inborn genetic diseases
RS368434069 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, COL4A3-related disorder
RS368434311 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 6, Cone-rod dystrophy 13
RS368435864 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS368437140 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS368437370 CABP2 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 93, Autosomal recessive nonsyndromic hearing loss 93
RS368437392 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS368437789 EP300 Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, EP300-related disorder
RS368438076 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS368438268 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS368438393 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS368439674 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368439899 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS368439919 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368440052 PARN Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 6
RS368440234 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS368441729 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS368442389 CDC73 Health Risk Conflicting classifications of pathogenicity Parathyroid carcinoma, Hereditary cancer-predisposing syndrome
RS368442575 F2 Health Risk Conflicting classifications of pathogenicity Congenital prothrombin deficiency, Thrombophilia due to thrombin defect
RS368443205 COL4A6 Health Risk Conflicting classifications of pathogenicity —
RS368443217 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS368443727 KIAA0586 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS368444006 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS368445278 XRCC2 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, Hereditary cancer-predisposing syndrome
RS368445837 SLC5A5 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 1, Thyroid dyshormonogenesis 1
RS368446029 COQ8A Health Risk Conflicting classifications of pathogenicity —
RS368446612 SNORD118 Health Risk Pathogenic Leukoencephalopathy with calcifications and cysts, Leukoencephalopathy with calcifications and cysts
RS368446857 FGA Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS368448146 FKBP6 Health Risk Likely pathogenic Spermatogenic failure 77, Male infertility
RS368448387 TOGARAM1 Health Risk Pathogenic Joubert syndrome, Joubert syndrome 37
RS368448770 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS368448794 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS368449590 BRAT1 Health Risk Conflicting classifications of pathogenicity Neonatal-onset encephalopathy with rigidity and seizures, Inborn genetic diseases
RS368450420 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS368450665 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease
RS368450785 TTN Health Risk Conflicting classifications of pathogenicity Myopathy, myofibrillar
RS368451006 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
RS368451393 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
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