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
RS1254334474 OCA2 Health Risk Pathogenic/Likely pathogenic Tyrosinase-positive oculocutaneous albinism, SKIN/HAIR/EYE PIGMENTATION 1
RS1254341785 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS1254353359 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1254380334 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS1254386724 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Pigmentary pallidal degeneration
RS1254391875 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1254393801 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Retinitis pigmentosa 12
RS1254396827 GCDH Health Risk Conflicting classifications of pathogenicity Glutaric aciduria, type 1
RS1254398721 SFXN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1254431908 SLC6A5 Health Risk Likely pathogenic Hyperekplexia 3, Hyperekplexia 3
RS1254433398 MMUT Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1254445828 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS1254456989 PNLDC1 Health Risk Pathogenic Spermatogenic failure 57, Spermatogenic failure 57
RS1254494198 KIZ Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1254495717 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1254503252 SLC25A13 Health Risk Pathogenic/Likely pathogenic Citrin deficiency, Citrullinemia
RS1254522989 MME Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia 43, Charcot-Marie-Tooth disease axonal type 2T
RS1254525537 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1254532871 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1254535640 PCSK9 Health Risk Conflicting classifications of pathogenicity Familial hypercholesterolemia, Hypercholesterolemia
RS1254582017 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1254608489 FLCN Health Risk Pathogenic/Likely pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS1254637647 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1254639941 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia complementation group C
RS1254650118 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1254666353 TYR Health Risk Pathogenic/Likely pathogenic Oculocutaneous albinism type 1, Oculocutaneous albinism type 1
RS1254671898 KATNIP Health Risk Likely pathogenic Joubert syndrome 26, Joubert syndrome 26
RS1254678434 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS1254692009 GP1BB Health Risk Likely pathogenic Macrothrombocytopenia, Macrothrombocytopenia
RS1254694736 ST3GAL5 Health Risk Pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1254718824 ACTB Health Risk Conflicting classifications of pathogenicity Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS1254739284 RAG1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS1254748860 ABCC6 Health Risk Pathogenic —
RS1254750166 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS1254776844 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1254791358 SGCG Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1254793733 EPAS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Erythrocytosis
RS1254796261 ANO5 Health Risk Pathogenic/Likely pathogenic —
RS1254806143 IFT81 Health Risk Likely pathogenic —
RS1254821821 RPS6KA2 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1254836237 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS1254841751 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 10
RS1254842178 ADAMTS18 Health Risk Pathogenic —
RS1254855971 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, 6 conditions
RS1254906246 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1254913477 MTRR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblE, Neural tube defects
RS1254934478 TTPA Health Risk Pathogenic/Likely pathogenic Familial isolated deficiency of vitamin E, Familial isolated deficiency of vitamin E
RS1254938356 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS1254951931 EIF2B5 Health Risk Likely pathogenic —
RS1254987046 OFD1 Health Risk Conflicting classifications of pathogenicity OFD1-related disorder, Joubert syndrome
RS1254993767 PPM1D Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold, Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
RS1254995369 QDPR Health Risk Pathogenic/Likely pathogenic QDPR-related disorder, Dihydropteridine reductase deficiency
RS1255001518 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1255010070 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS1255017270 ITGB3 Health Risk Likely pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1255058507 ST3GAL5 Health Risk Likely pathogenic GM3 synthase deficiency, GM3 synthase deficiency
RS1255066720 NLRP5 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
RS1255101216 BRAF Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 1, Cardiofaciocutaneous syndrome 1
RS1255115751 POLR1C Health Risk Pathogenic/Likely pathogenic Hypomyelinating leukodystrophy 11, Hypomyelinating leukodystrophy 11
RS1255137785 COQ4 Health Risk Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS1255149314 ABCA4 Health Risk Pathogenic Stargardt disease, Stargardt disease
RS1255179780 MMACHC Health Risk Pathogenic/Likely pathogenic Cobalamin C disease, Cobalamin C disease
RS1255183431 DDX3X Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1255226703 FITM2 Health Risk Pathogenic Siddiqi syndrome, Siddiqi syndrome
RS1255229981 CLCN1 Health Risk Likely pathogenic Congenital myotonia, autosomal recessive form
RS1255262851 UNC80 Health Risk Conflicting classifications of pathogenicity —
RS1255271151 F8 Health Risk Pathogenic Hereditary factor VIII deficiency disease, Thyroid cancer
RS1255277037 SLC12A3 Health Risk Pathogenic —
RS1255282773 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS1255293139 HMGCS1 Health Risk Pathogenic Rigid spine syndrome, CONGENITAL MYOPATHY 28 WITH RIGID SPINE
RS1255299868 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 2
RS1255308813 CYP11B1 Health Risk Conflicting classifications of pathogenicity Glucocorticoid-remediable aldosteronism, Glucocorticoid-remediable aldosteronism
RS1255327063 GJC2 Health Risk Pathogenic —
RS1255356768 NFIA Health Risk Likely pathogenic Brain malformations with or without urinary tract defects, Brain malformations with or without urinary tract defects
RS1255360497 RORB Health Risk Conflicting classifications of pathogenicity —
RS1255367068 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1255380257 AGPAT2 Health Risk Likely pathogenic Congenital generalized lipodystrophy type 1, Congenital generalized lipodystrophy type 1
RS1255386092 NIPAL4 Health Risk Likely pathogenic —
RS1255387521 MYLK Health Risk Likely pathogenic —
RS1255388549 TG Health Risk Pathogenic —
RS1255401731 COL7A1 Health Risk Likely pathogenic 7 conditions, 7 conditions
RS1255407239 CERKL Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 26, Retinitis pigmentosa 26
RS1255421232 CD46 Health Risk Likely pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS1255440756 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1255441851 CCDC134 Health Risk Pathogenic Recurrent fractures, Osteogenesis imperfecta
RS1255445731 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1255475913 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS1255519055 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1255531873 MUSK Health Risk Pathogenic Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS1255534617 NALCN Health Risk Pathogenic —
RS1255535680 USH2A Health Risk Pathogenic —
RS1255541938 SI Health Risk Likely pathogenic —
RS1255543147 C12orf57;RNU7-1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 9, Aicardi-Goutieres syndrome 9
RS1255552826 SLC26A2 Health Risk Pathogenic Atelosteogenesis type II, Multiple epiphyseal dysplasia type 4
RS1255556757 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS1255557802 PKD2 Health Risk Likely pathogenic —
RS1255573826 SOX9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Camptomelic dysplasia
RS1255579349 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS1255592098 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1255618541 ERCC4 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group F
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