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
RS1437787933 ALPL Health Risk Conflicting classifications of pathogenicity Hypophosphatasia, ALPL-related disorder
RS1437789978 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS143779086 GANAB Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 3 with or without polycystic liver disease, GANAB-related disorder
RS143779235 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Pyropoikilocytosis
RS143780031 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143780139 IGLL1 Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 2, autosomal recessive
RS143780369 SLC19A2 Health Risk Conflicting classifications of pathogenicity Megaloblastic anemia, thiamine-responsive
RS1437804875 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS143780942 KCNT1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 14
RS143781303 CLN6 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS143781513 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1437816655 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS1437816828 PLCE1 Health Risk Pathogenic —
RS1437822062 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS143782428 PSEN1 Health Risk Conflicting classifications of pathogenicity Alzheimer disease 3, Dilated cardiomyopathy 1U
RS143782439 DCLRE1C Health Risk Conflicting classifications of pathogenicity Histiocytic medullary reticulosis, Severe combined immunodeficiency due to DCLRE1C deficiency
RS143782870 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1, Autosomal recessive nonsyndromic hearing loss 12
RS1437830511 STIL Health Risk Pathogenic —
RS143783144 FUT8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143783500 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1437841365 CEP290 Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Meckel-Gruber syndrome
RS143784708 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1437847867 POLR3A Health Risk Pathogenic —
RS1437851867 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS143785279 PITPNM3 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 5, Cone-rod dystrophy 5
RS143785426 PREPL Health Risk Conflicting classifications of pathogenicity Myasthenic syndrome, congenital
RS1437858319 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS143785911 ITGA3 Health Risk Conflicting classifications of pathogenicity ITGA3-related disorder, Epidermolysis bullosa
RS143785916 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS143788427 CABP4 Health Risk Conflicting classifications of pathogenicity Cone-rod synaptic disorder, congenital nonprogressive
RS143788461 GNPTAB Health Risk Conflicting classifications of pathogenicity Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1437892966 DCLRE1C Health Risk Likely pathogenic Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS1437893220 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143789597 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, TYMP-related disorder
RS143790367 PROP1 Health Risk Conflicting classifications of pathogenicity Pituitary hormone deficiency, combined
RS143790434 CCDC22 Health Risk Conflicting classifications of pathogenicity CCDC22-related disorder, Intellectual disability
RS1437906953 TH Health Risk Conflicting classifications of pathogenicity Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1437912745 NDUFS4 Health Risk Pathogenic —
RS143791655 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Isolated cryptophthalmia
RS1437920638 APRT Health Risk Pathogenic Adenine phosphoribosyltransferase deficiency, Adenine phosphoribosyltransferase deficiency
RS1437930772 ITGB4 Health Risk Likely pathogenic —
RS143793528 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS1437937060 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1437939162 ZMYND11 Health Risk Conflicting classifications of pathogenicity —
RS143794240 SLC4A1 Health Risk Conflicting classifications of pathogenicity 11 conditions, 11 conditions
RS143795581 RET Health Risk Pathogenic/Likely pathogenic Multiple endocrine neoplasia, type 2
RS143795587 NCAPD2 Health Risk Conflicting classifications of pathogenicity —
RS143796089 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS143796254 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS143796440 CHD7 Health Risk Conflicting classifications of pathogenicity Familial atrioventricular septal defect, Inborn genetic diseases
RS143796828 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS143797098 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS143797113 CLDN14 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 29, Monogenic hearing loss
RS143797418 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS1437975458 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Nephrolithiasis/nephrocalcinosis
RS143797790 LIG1 Health Risk Conflicting classifications of pathogenicity LIG1-related disorder, LIG1-related disorder
RS143798161 SDHA Health Risk Pathogenic Pheochromocytoma/paraganglioma syndrome 5, Hereditary cancer-predisposing syndrome
RS143798359 HNRNPU Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS143798878 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1437993640 ABCA4 Health Risk Pathogenic Stargardt disease, Retinal dystrophy
RS1437995318 AGPAT2 Health Risk Likely pathogenic AGPAT2-related disorder, AGPAT2-related disorder
RS143800095 AP5Z1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 48, Hereditary spastic paraplegia 48
RS143800157 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS143800384 TAP1 Health Risk Pathogenic MHC class I deficiency, MHC class I deficiency 1
RS1438015268 DYNC2H1 Health Risk Pathogenic Asphyxiating thoracic dystrophy 3, Jeune thoracic dystrophy
RS143801899 TBX19 Health Risk Conflicting classifications of pathogenicity Congenital isolated adrenocorticotropic hormone deficiency, Congenital isolated adrenocorticotropic hormone deficiency
RS143802377 MYO1C Health Risk Conflicting classifications of pathogenicity MYO1C-related disorder, MYO1C-related disorder
RS143802431 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity Cutis laxa with osteodystrophy, Wrinkly skin syndrome
RS1438029595 COL2A1 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS143802989 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143803967 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1438045891 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia, Catecholaminergic polymorphic ventricular tachycardia 1
RS143804809 ERBIN Health Risk Conflicting classifications of pathogenicity —
RS1438054052 KIDINS220 Health Risk Pathogenic/Likely pathogenic KIDINS220-related disorder, KIDINS220-related disorder
RS143805893 ASPM Health Risk Conflicting classifications of pathogenicity Microcephaly 5, primary
RS1438059784 BRIP1 Health Risk Likely pathogenic Breast and/or ovarian cancer, Breast and/or ovarian cancer
RS1438060081 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS1438064001 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS143806921 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS143807689 SUFU Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Medulloblastoma
RS1438077609 ACVRL1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS143807935 PITPNM3 Health Risk Conflicting classifications of pathogenicity —
RS143808171 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS143808356 LGI1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant epilepsy with auditory features, Inborn genetic diseases
RS1438087533 KRT83 Health Risk Pathogenic Monilethrix-3, Monilethrix-3
RS143809043 PGAM2 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type X, PGAM2-related disorder
RS143809463 DRC4 Health Risk Pathogenic Primary ciliary dyskinesia 33, Primary ciliary dyskinesia 33
RS1438095083 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS143809932 F12 Health Risk Conflicting classifications of pathogenicity Hereditary angioedema type 3, Inborn genetic diseases
RS143810171 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS1438103809 LSS Health Risk Pathogenic —
RS143810968 DDX59 Health Risk Conflicting classifications of pathogenicity —
RS1438114920 HBG2 Health Risk Conflicting classifications of pathogenicity Cyanosis, transient neonatal
RS1438119530 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS143812636 HOXA11 Health Risk Conflicting classifications of pathogenicity Radioulnar synostosis with amegakaryocytic thrombocytopenia 1, HOXA11-related disorder
RS1438128043 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS143812944 SPATA7 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 3, Retinitis pigmentosa
RS143813005 FLT4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS143813189 TRAF3 Health Risk Conflicting classifications of pathogenicity Herpes simplex encephalitis, susceptibility to
RS143813417 PMPCA Health Risk Conflicting classifications of pathogenicity —
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