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
RS182603736 WDR1 Health Risk Conflicting classifications of pathogenicity WDR1-related disorder, WDR1-related disorder
RS182609216 TRPV4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2C, Scapuloperoneal spinal muscular atrophy
RS182614164 RRM2B Health Risk Likely pathogenic RRM2B-related mitochondrial disease, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS1826145876 CEP78 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1826148463 CEP78 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1826157128 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS182618840 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS1826221738 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS182622896 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS182623063 MTFMT Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 15, Combined oxidative phosphorylation defect type 15
RS182623173 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS1826241208 CEP78 Health Risk Pathogenic —
RS182626712 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1826288852 KCNQ3 Health Risk Pathogenic Benign neonatal seizures, Benign neonatal seizures
RS182633348 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group C, Fanconi anemia
RS182633829 TTN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1826338661 CEP78 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS182634806 COL4A5 Health Risk Conflicting classifications of pathogenicity —
RS182635953 CHRNG Health Risk Conflicting classifications of pathogenicity Autosomal recessive multiple pterygium syndrome, Lethal multiple pterygium syndrome
RS182641358 LMBR1 Health Risk Conflicting classifications of pathogenicity Polydactyly of a triphalangeal thumb, Inborn genetic diseases
RS1826416962 KCNQ3 Health Risk Likely pathogenic Benign neonatal seizures, Benign neonatal seizures
RS1826418572 TEK Health Risk Pathogenic Abnormal cardiovascular system morphology, Multiple cutaneous and mucosal venous malformations
RS182644267 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS1826457641 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Inborn genetic diseases
RS1826458502 VPS13A Health Risk Pathogenic —
RS1826462356 TEK Health Risk Pathogenic Abnormal cardiovascular system morphology, Multiple cutaneous and mucosal venous malformations
RS1826463406 TEK Health Risk Pathogenic Abnormal cardiovascular system morphology, Multiple cutaneous and mucosal venous malformations
RS1826465235 RIC1 Health Risk Likely pathogenic Catifa syndrome, Catifa syndrome
RS1826478037 KCNQ3 Health Risk Likely pathogenic —
RS182650126 SCN9A Health Risk Conflicting classifications of pathogenicity Small fiber neuropathy, Paroxysmal extreme pain disorder
RS182650447 ARG1 Health Risk Conflicting classifications of pathogenicity Arginase deficiency, Arginase deficiency
RS182650589 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 4, Fibromatosis
RS1826516488 GBA2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS182651973 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS182657062 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS182657680 COL11A2 Health Risk Conflicting classifications of pathogenicity Otospondylomegaepiphyseal dysplasia, autosomal recessive
RS182660189 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS1826624806 TMC1 Health Risk Pathogenic —
RS1826626358 TMC1 Health Risk Likely pathogenic —
RS1826656424 ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS1826677470 GNAQ Health Risk Pathogenic Familial multiple nevi flammei, Familial multiple nevi flammei
RS1826688168 TRPM6 Health Risk Likely pathogenic —
RS182669506 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica
RS1826712021 KCNQ3 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS182671518 IQCE Health Risk Conflicting classifications of pathogenicity IQCE-related disorder, IQCE-related disorder
RS182672196 DMXL2 Health Risk Conflicting classifications of pathogenicity —
RS1826751784 EEF1D Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS182677317 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS182678639 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS182681228 ZC4H2 Health Risk Pathogenic —
RS182683829 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1826858068 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS182685983 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS1826889658 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS1826893287 SLC44A1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1826897308 PHF2 Health Risk Likely pathogenic —
RS182692927 FNDC1 Health Risk Conflicting classifications of pathogenicity —
RS1826936558 VPS13A Health Risk Conflicting classifications of pathogenicity Chorea-acanthocytosis, Chorea-acanthocytosis
RS1826940302 VPS13A Health Risk Pathogenic —
RS182694054 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS182698253 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Febrile seizures
RS1826989524 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1826992833 ANK1;LOC126860369 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS182699929 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS182700462 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1827030121 HRURF Health Risk Pathogenic Hypotrichosis 4, Hypotrichosis 4
RS1827048548 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS182707743 ORC1 Health Risk Conflicting classifications of pathogenicity Meier-Gorlin syndrome 1, Meier-Gorlin syndrome 1
RS1827098991 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1827116262 GBA2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spastic paraplegia
RS1827118960 CSPP1 Health Risk Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS1827126921 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1827133059 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1827159007 VPS13A Health Risk Pathogenic —
RS1827161118 VPS13A Health Risk Pathogenic Chorea-acanthocytosis, Chorea-acanthocytosis
RS182720979 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1827231890 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS1827248750 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182726681 MMUT Health Risk Conflicting classifications of pathogenicity Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS1827276619 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS1827283362 GABBR2 Health Risk Likely pathogenic Inborn genetic diseases, Neurodevelopmental disorder with poor language and loss of hand skills
RS182730243 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1827306118 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827314465 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827340429 CEP78 Health Risk Pathogenic Cone-rod dystrophy, Cone-rod dystrophy
RS1827352302 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182736373 FGA Health Risk Conflicting classifications of pathogenicity Familial visceral amyloidosis, Ostertag type
RS1827372162 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827381348 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Ehlers-Danlos syndrome
RS182739177 PIGQ Health Risk Conflicting classifications of pathogenicity Epilepsy, Epilepsy
RS1827393391 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Rothmund-Thomson syndrome type 2
RS1827432061 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS182743597 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS1827450545 LGI3 Health Risk Pathogenic Peripheral nerve hyperexcitability syndrome, Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects
RS1827482942 AUH Health Risk Likely pathogenic 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS1827483654 RECQL4 Health Risk Pathogenic Baller-Gerold syndrome, Baller-Gerold syndrome
RS1827486281 TGFBR1 Health Risk Likely pathogenic —
RS1827496704 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 1
RS1827497991 TGFBR1 Health Risk Likely pathogenic Multiple self-healing squamous epithelioma, Multiple self-healing squamous epithelioma
RS182750960 PRKAG2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
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