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
RS147580966 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS1475810942 COL2A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 1, Type 2 collagenopathy
RS147581794 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal dominant form
RS147582834 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Cardiovascular phenotype
RS147582935 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS147582946 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS147583157 EP300 Health Risk Conflicting classifications of pathogenicity EP300-related disorder, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS147583407 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147584015 MYL3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS147584221 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS147584242 KRT12 Health Risk Conflicting classifications of pathogenicity KRT12-related disorder, Inborn genetic diseases
RS147584261 SLC25A11 Health Risk Conflicting classifications of pathogenicity Pheochromocytoma/paraganglioma syndrome 6, Pheochromocytoma/paraganglioma syndrome 6
RS147584295 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS147584531 STAG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1475846023 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Nemaline myopathy 2
RS1475853887 CHRNB2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS1475859257 SKIC2 Health Risk Likely pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS1475860578 LAMC2 Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa, junctional 3A
RS147586507 MACF1 Health Risk Conflicting classifications of pathogenicity Lissencephaly 9 with complex brainstem malformation, Lissencephaly 9 with complex brainstem malformation
RS147586703 RPGRIP1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 13, Leber congenital amaurosis 6
RS1475867666 COL11A1 Health Risk Conflicting classifications of pathogenicity CHEK2-related cancer predisposition, CHEK2-related cancer predisposition
RS1475869303 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS147587050 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS1475873048 F8 Health Risk Pathogenic/Likely pathogenic Hereditary factor VIII deficiency disease, Hereditary factor VIII deficiency disease
RS147587391 SAMD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, SAMD9-related disorder
RS147587689 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease
RS147588579 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, CPLANE1-related disorder
RS147588666 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis 4
RS1475888359 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1475898236 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS147589840 CLPP Health Risk Likely pathogenic —
RS147591431 LONP1 Health Risk Conflicting classifications of pathogenicity CODAS syndrome, Inborn genetic diseases
RS147591485 TGM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147591591 CNGA1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS147591946 FLNB Health Risk Conflicting classifications of pathogenicity —
RS147591998 TET2 Health Risk Conflicting classifications of pathogenicity —
RS1475923286 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS147592452 NSD1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS1475926873 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1475930869 VPS13A Health Risk Pathogenic —
RS147593839 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa
RS147594191 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147594815 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS147594996 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Inborn genetic diseases
RS147596471 MYO1E Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 6, MYO1E-related disorder
RS147596628 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Cardiovascular phenotype
RS1475966997 ABCA4 Health Risk Pathogenic —
RS147596765 EIF2B2 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS147596900 FOXI1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 4, Autosomal recessive nonsyndromic hearing loss 4
RS147597066 CFAP91 Health Risk Pathogenic Male infertility with teratozoospermia due to single gene mutation, Spermatogenic failure 51
RS147597665 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS1475978079 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS147597912 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy type B6, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS147598095 GANAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease
RS147598199 SIPA1L3 Health Risk Conflicting classifications of pathogenicity —
RS147598221 COG1 Health Risk Conflicting classifications of pathogenicity COG1 congenital disorder of glycosylation, COG1 congenital disorder of glycosylation
RS1475984278 ETFA Health Risk Likely pathogenic Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS147599098 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Inborn genetic diseases
RS147599478 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS147600006 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Intellectual disability
RS147600485 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1476012328 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS147601285 SLC24A5 Health Risk Pathogenic —
RS1476016104 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS147601618 DPYD Health Risk Conflicting classifications of pathogenicity Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1476017129 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1476020004 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1476026799 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1476031758 TTC7A Health Risk Pathogenic/Likely pathogenic Multiple gastrointestinal atresias, Gastrointestinal defects and immunodeficiency syndrome 1
RS1476034902 GJB2 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 1A, Autosomal recessive nonsyndromic hearing loss 1A
RS147604227 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS147605116 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS147605535 ANO10 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS1476066527 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 3
RS147606900 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS147607230 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS1476072388 ALPL Health Risk Pathogenic/Likely pathogenic Hypophosphatasia, Hypophosphatasia
RS147607553 CHRNB1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 2A, Congenital myasthenic syndrome 4C
RS1476076948 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1476077876 EPHB4 Health Risk Pathogenic —
RS147608206 ANK1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 1, See cases
RS1476085935 NOBOX Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS1476093811 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1476093958 TRIP11 Health Risk Pathogenic Achondrogenesis, type IA
RS1476095782 ERCC8 Health Risk Pathogenic/Likely pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS147610681 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS147610727 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS147611168 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS147611409 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS147611594 KCNJ1 Health Risk Conflicting classifications of pathogenicity Bartter disease type 2, Bartter disease type 2
RS147612089 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Inborn genetic diseases
RS1476121151 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS147612968 COL10A1 Health Risk Conflicting classifications of pathogenicity Metaphyseal chondrodysplasia, Schmid type
RS1476130680 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS1476136894 MAN1B1 Health Risk Conflicting classifications of pathogenicity Rafiq syndrome, Rafiq syndrome
RS147613739 ZNF277 Health Risk Conflicting classifications of pathogenicity —
RS147614414 ABCC2 Health Risk Conflicting classifications of pathogenicity ABCC2-related disorder, ABCC2-related disorder
RS147614663 IMPG1 Health Risk Conflicting classifications of pathogenicity Benign concentric annular macular dystrophy, Vitelliform macular dystrophy 4
RS147614840 SEMA3E Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, SEMA3E-related disorder
RS1476152257 MMP13 Health Risk Pathogenic —
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