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
RS1410933611 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1410935154 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS141093530 ROR2 Health Risk Conflicting classifications of pathogenicity —
RS141093638 MMADHC Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria and homocystinuria type cblD, Disorders of Intracellular Cobalamin Metabolism
RS141095352 RXYLT1 Health Risk Conflicting classifications of pathogenicity —
RS141095369 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS1410954062 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS141095970 SERPINA1 Health Risk Conflicting classifications of pathogenicity Alpha-1-antitrypsin deficiency, SERPINA1-related disorder
RS141096005 PDHX Health Risk Conflicting classifications of pathogenicity —
RS1410964899 DCAF17 Health Risk Pathogenic/Likely pathogenic Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS1410967693 LOXHD1 Health Risk Likely pathogenic —
RS141097070 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS1410970733 SMARCB1 Health Risk Likely pathogenic —
RS141098117 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, Menke-Hennekam syndrome 1
RS1410982143 CNTN1 Health Risk Pathogenic Compton-North congenital myopathy, Compton-North congenital myopathy
RS1410984638 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS141098495 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS141098733 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS1410990711 ABCD4 Health Risk Conflicting classifications of pathogenicity Methylmalonic acidemia with homocystinuria, type cblJ
RS1410993219 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS1410996 CFH Health Risk risk factor Age related macular degeneration 4, Age related macular degeneration 4
RS141099682 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS141099767 KCNV2 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS141100113 GPC3 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, Hereditary cancer-predisposing syndrome
RS141100163 TOGARAM1 Health Risk Conflicting classifications of pathogenicity —
RS141101234 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, Congenital muscular dystrophy due to partial LAMA2 deficiency
RS141101699 ABL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1411037881 G6PC1 Health Risk Likely pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS141103838 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS141103974 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 11
RS141107290 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS1411075980 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS1411083098 PRPF31 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 11, Retinal dystrophy
RS141108330 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS1411086593 CREBBP Health Risk Likely pathogenic CREBBP-related disorder, CREBBP-related disorder
RS1411087205 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder 1
RS141109062 MFRP Health Risk Conflicting classifications of pathogenicity Isolated microphthalmia 5, Isolated microphthalmia 5
RS1411094034 CTNS Health Risk Pathogenic/Likely pathogenic Juvenile nephropathic cystinosis, Inborn genetic diseases
RS141109938 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS141109968 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS1411100549 KIF1A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 30, Neuropathy
RS141110759 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS141110958 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS141111646 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS1411117952 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS141112437 ALDH3A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sjögren-Larsson syndrome
RS1411134954 ANKRD11 Health Risk Pathogenic Intellectual disability, KBG syndrome
RS1411146465 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS141114765 IFT43 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 81, Connective tissue disorder
RS141114931 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS141115137 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS1411151969 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141115577 ALOXE3 Health Risk Likely pathogenic Lamellar ichthyosis, Lamellar ichthyosis
RS141116831 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS141117096 FMO3 Health Risk Conflicting classifications of pathogenicity Trimethylaminuria, Trimethylaminuria
RS141117135 KCNH2 Health Risk Pathogenic —
RS141117382 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS141118263 WDR35 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 7 with or without polydactyly, Cranioectodermal dysplasia 2
RS1411185199 ADAMTSL4 Health Risk Pathogenic —
RS141118996 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, MSH3-related disorder
RS1411192932 SMAD6 Health Risk Likely pathogenic Thoracic aortic aneurysm, Thoracic aortic aneurysm
RS141119655 ABCB7 Health Risk Conflicting classifications of pathogenicity X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia
RS1411200130 LZTR1 Health Risk Pathogenic Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS141120074 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS141121035 ERCC6 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 5, Cerebrooculofacioskeletal syndrome 1
RS141121202 PIGO Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS141121335 CEP63 Health Risk Pathogenic —
RS1411221306 HLCS Health Risk Pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS141123597 SFTPB Health Risk Conflicting classifications of pathogenicity Surfactant metabolism dysfunction, pulmonary
RS1411236177 MANBA Health Risk Likely pathogenic Beta-D-mannosidosis, Beta-D-mannosidosis
RS1411236279 SPTA1 Health Risk Likely pathogenic —
RS1411237340 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS1411237396 NDUFA12 Health Risk Likely pathogenic Mitochondrial complex I deficiency, nuclear type 23
RS1411245193 ACE Health Risk Pathogenic —
RS141124805 JUP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 12
RS141125763 DRC4 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 33, Inborn genetic diseases
RS141126404 AEBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1411267767 ASAH1 Health Risk Likely pathogenic Farber lipogranulomatosis, Farber lipogranulomatosis
RS1411268654 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS141127013 COL4A4 Health Risk Pathogenic Alport syndrome, COL4A4-related disorder
RS1411270811 NTHL1 Health Risk Likely pathogenic Familial adenomatous polyposis 3, Familial adenomatous polyposis 3
RS141127674 CYP11A1 Health Risk Conflicting classifications of pathogenicity Congenital adrenal insufficiency with 46, XY sex reversal OR 46
RS141127966 CHAT Health Risk Conflicting classifications of pathogenicity Familial infantile myasthenia, Inborn genetic diseases
RS1411280373 KCNJ1 Health Risk Likely pathogenic Bartter disease type 2, Bartter disease type 2
RS141128719 RP1L1 Health Risk Conflicting classifications of pathogenicity Occult macular dystrophy, Inborn genetic diseases
RS141129222 TFAP2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS141129877 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
RS1411305679 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Spondylometaphyseal dysplasia
RS141131535 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS141131642 CTR9 Health Risk Conflicting classifications of pathogenicity —
RS1411316425 ACTB Health Risk Likely pathogenic Baraitser-Winter syndrome 1, Baraitser-Winter syndrome 1
RS141131693 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS141131742 SLC24A4 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS141132016 POGZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, POGZ-related disorder
RS141133182 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS141133392 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS141133453 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS141133813 PSAP Health Risk Conflicting classifications of pathogenicity Gaucher disease due to saposin C deficiency, Combined PSAP deficiency
RS1411339072 FRRS1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS1411348345 ATRX Health Risk Conflicting classifications of pathogenicity Intellectual disability-hypotonic facies syndrome, X-linked
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