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
RS1274337429 KDM6B Health Risk Likely pathogenic Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities, Neurodevelopmental disorder with coarse facies and mild distal skeletal abnormalities
RS1274340353 FLNC Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS1274363168 GTPBP3 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 23, Combined oxidative phosphorylation defect type 23
RS1274368655 CFTR Health Risk Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS1274380766 COL25A1 Health Risk Likely pathogenic Fibrosis of extraocular muscles, congenital
RS1274412848 PCNA Health Risk Likely pathogenic Ataxia-telangiectasia-like disorder 2, Ataxia-telangiectasia-like disorder 2
RS1274423913 DUOX2 Health Risk Pathogenic —
RS1274425509 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1274454493 LZTR1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS1274459294 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Hematuria
RS1274464930 OTOF Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1274484561 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS1274495820 SCN5A Health Risk Likely pathogenic Brugada syndrome, Cardiac arrhythmia
RS1274497690 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS1274520145 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1274525885 LZTR1 Health Risk Pathogenic —
RS1274535844 TYMP Health Risk Pathogenic —
RS1274547742 PMM2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, PMM2-congenital disorder of glycosylation
RS1274554341 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1274558905 ABCB11 Health Risk Pathogenic —
RS1274564118 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS1274576794 NFKB2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1274585455 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Inborn genetic diseases
RS1274587234 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1274600570 FA2H Health Risk Likely pathogenic Hereditary spastic paraplegia 35, Hereditary spastic paraplegia 35
RS1274600876 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1274601103 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Mastocytosis
RS1274606112 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1274606876 PDHB Health Risk Likely pathogenic Pyruvate dehydrogenase E1-beta deficiency, Pyruvate dehydrogenase E1-beta deficiency
RS1274633498 NAA15 Health Risk Pathogenic Inborn genetic diseases, Intellectual disability
RS1274642595 DICER1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, DICER1-related tumor predisposition
RS1274650161 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1274662962 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS1274663711 KCNJ10 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, EAST syndrome
RS1274681944 RTEL1 Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1274685768 UNC13D Health Risk Pathogenic/Likely pathogenic Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS1274699363 LMOD3 Health Risk Pathogenic Nemaline myopathy 10, Nemaline myopathy 10
RS1274703528 TNFRSF11A Health Risk Conflicting classifications of pathogenicity —
RS1274728448 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1274744069 TRIP11 Health Risk Likely pathogenic Achondrogenesis, type IA
RS1274769729 IL1RN Health Risk Conflicting classifications of pathogenicity Autoinflammatory syndrome, Sterile multifocal osteomyelitis with periostitis and pustulosis
RS1274777810 IQSEC2 Health Risk Likely pathogenic —
RS1274780855 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1274785101 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS1274794195 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS1274804688 CDHR1 Health Risk Pathogenic —
RS1274808359 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1274810899 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1274824614 TMX2 Health Risk Pathogenic Neurodevelopmental disorder with microcephaly, cortical malformations
RS1274884825 EYS Health Risk Pathogenic —
RS1274894982 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1274912017 MAK Health Risk Pathogenic —
RS1274913587 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS1274923045 UNC80 Health Risk Pathogenic —
RS1274926456 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS1274931972 LOX Health Risk Pathogenic/Likely pathogenic Aortic aneurysm, familial thoracic 10
RS1274950884 FLNB Health Risk Likely pathogenic Larsen syndrome, Larsen syndrome
RS12749581 MTR Health Risk Conflicting classifications of pathogenicity Methylcobalamin deficiency type cblG, Disorders of Intracellular Cobalamin Metabolism
RS1274960889 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS1274964616 EIF2AK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1274973729 SLC12A3 Health Risk Pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS1274989641 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1274989878 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS1274998781 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1275009555 SLC26A4 Health Risk Pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1275011230 ABCC2 Health Risk Likely pathogenic —
RS1275015633 LAMA3 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1275029034 SLC26A4 Health Risk Likely pathogenic Pendred syndrome, Autosomal recessive nonsyndromic hearing loss 4
RS1275059440 PADI6 Health Risk Pathogenic Preimplantation embryonic lethality 2, Preimplantation embryonic lethality 2
RS1275074212 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS1275100093 MTO1 Health Risk Conflicting classifications of pathogenicity Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1275113273 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS1275118660 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS1275130611 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS1275134450 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS1275150702 TONSL Health Risk Pathogenic —
RS1275153634 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1275178104 PADI6 Health Risk Likely pathogenic PADI6-related disorder, PADI6-related disorder
RS1275187815 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS1275195637 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1275239738 TELO2 Health Risk Pathogenic —
RS1275257135 ERCC6 Health Risk Conflicting classifications of pathogenicity Cockayne syndrome type 2, Cockayne syndrome type 2
RS1275272268 WFS1 Health Risk Likely pathogenic Wolfram syndrome 1, Wolfram syndrome 1
RS1275289254 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS1275298143 GAA Health Risk Pathogenic/Likely pathogenic Glycogen storage disease, type II
RS1275309068 SERPINA1 Health Risk Likely pathogenic SERPINA1-related disorder, SERPINA1-related disorder
RS1275309136 ADGRG1 Health Risk Pathogenic —
RS1275309683 CSF1R Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy, diffuse hereditary
RS1275312464 SON Health Risk Pathogenic ZTTK syndrome, ZTTK syndrome
RS1275367324 CCDC39 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1275375836 TCTN1 Health Risk Pathogenic Joubert syndrome 13, Joubert syndrome
RS1275378306 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS1275386976 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1275390489 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS1275395933 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1275422176 SLC12A6 Health Risk Pathogenic —
RS1275469562 TRMU Health Risk Pathogenic —
RS1275489342 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1275489527 MYT1L Health Risk Pathogenic Intellectual disability, autosomal dominant 39
RS1275490470 ALDH7A1 Health Risk Pathogenic Pyridoxine-dependent epilepsy, Pyridoxine-dependent epilepsy
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