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
RS751074844 SKIC2 Health Risk Pathogenic Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS751075073 MCMDC2 Health Risk Likely pathogenic Male infertility with azoospermia or oligozoospermia due to single gene mutation, Male infertility with azoospermia or oligozoospermia due to single gene mutation
RS751076276 SH2B3 Health Risk Likely pathogenic Primary myelofibrosis, Primary myelofibrosis
RS751076530 PEX1 Health Risk Pathogenic/Likely pathogenic Heimler syndrome 1, Zellweger spectrum disorders
RS751076878 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS751078884 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS751079525 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS751079690 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS751080704 MARS1 Health Risk Conflicting classifications of pathogenicity Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency, Charcot-Marie-Tooth disease axonal type 2U
RS751080818 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS751081026 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS751081074 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS751082361 SIL1 Health Risk Conflicting classifications of pathogenicity Marinesco-Sjögren syndrome, Marinesco-Sjögren syndrome
RS751082926 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS751084282 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS751084365 KIF1B Health Risk Conflicting classifications of pathogenicity Neuroblastoma, Charcot-Marie-Tooth disease type 2
RS751084512 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS751084584 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS751085066 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS751086453 PIGO Health Risk Pathogenic Hyperphosphatasia with intellectual disability syndrome 2, Hyperphosphatasia with intellectual disability syndrome 2
RS751088292 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS751088347 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS751090118 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS751090469 CPT2 Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyltransferase II deficiency, Inborn genetic diseases
RS751090809 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS751090951 PROS1 Health Risk Conflicting classifications of pathogenicity Thrombophilia due to protein S deficiency, autosomal recessive
RS751092504 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS751093304 CDON Health Risk Conflicting classifications of pathogenicity Holoprosencephaly 11, Inborn genetic diseases
RS751093392 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS751093906 SLC20A2 Health Risk Pathogenic Idiopathic basal ganglia calcification 1, Idiopathic basal ganglia calcification 1
RS751094013 CHD8 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder with autism and macrocephaly
RS751094041 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS751094147 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS751094298 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS751095642 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS751096098 RPGRIP1 Health Risk Pathogenic Leber congenital amaurosis 6, Leber congenital amaurosis 6
RS751097660 ASPM Health Risk Conflicting classifications of pathogenicity —
RS751097758 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome
RS751098333 CFTR Health Risk Pathogenic/Likely pathogenic Cystic fibrosis, Cystic fibrosis
RS751098874 PEX10 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, complementation group 7
RS751099539 GFM2 Health Risk Likely pathogenic —
RS751101220 MIPEP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS751101419 SLC25A46 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1E
RS751101495 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS751102649 CARMIL2 Health Risk Likely pathogenic —
RS751103088 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS751103286 JAM2 Health Risk Pathogenic Basal ganglia calcification, idiopathic
RS751104396 CAPN3 Health Risk Conflicting classifications of pathogenicity Abnormality of the musculature, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS751104940 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS751105293 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1B
RS751107938 COL1A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Osteogenesis imperfecta type I
RS751107971 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS751109501 ADAMTSL4 Health Risk Likely pathogenic —
RS751110498 SORL1 Health Risk Conflicting classifications of pathogenicity —
RS751111524 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Usher syndrome type 2A
RS751111546 GABBR2 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS751112173 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 9, Bardet-Biedl syndrome
RS751112302 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS751112452 WRN Health Risk Pathogenic Werner syndrome, Werner syndrome
RS751112698 SLC12A3 Health Risk Likely pathogenic Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS751113129 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS751113638 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS751115103 ERCC6 Health Risk Conflicting classifications of pathogenicity Cerebrooculofacioskeletal syndrome 1, Cockayne syndrome type 2
RS751115639 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS751116452 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751116790 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS751117377 MPZL2 Health Risk Likely pathogenic —
RS751117590 KRAS Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS751117857 USH2A Health Risk Pathogenic —
RS751118731 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS751118849 RANBP2 Health Risk Conflicting classifications of pathogenicity Familial acute necrotizing encephalopathy, Familial acute necrotizing encephalopathy
RS751119069 CEL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751120046 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS751120519 FAM161A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS751120868 TSEN54 Health Risk Conflicting classifications of pathogenicity Pontoneocerebellar hypoplasia, Pontoneocerebellar hypoplasia
RS751121559 TTN Health Risk Conflicting classifications of pathogenicity —
RS751122249 PRICKLE2 Health Risk Conflicting classifications of pathogenicity Progressive myoclonic epilepsy type 5, Progressive myoclonic epilepsy type 5
RS751122263 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS751122392 IFT43 Health Risk Likely pathogenic —
RS751122998 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS751123751 LZTR1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cardiovascular phenotype
RS751124572 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS751124745 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS751125011 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS751125855 ADAMTSL4 Health Risk Pathogenic —
RS751126274 UNG Health Risk Pathogenic Hyper-IgM syndrome type 5, Hyper-IgM syndrome type 5
RS751127087 NIPBL Health Risk Conflicting classifications of pathogenicity Cornelia de Lange syndrome 1, Cornelia de Lange syndrome 1
RS751128167 CFAP418 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, CFAP418-related disorder
RS751128287 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS751128300 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS751129547 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS751130485 USH2A Health Risk Pathogenic Usher syndrome type 2A, Retinal dystrophy
RS751131066 NONO Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability 34, Syndromic X-linked intellectual disability 34
RS751132977 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS751133155 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS751133336 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, Inborn genetic diseases
RS751134093 MPV17 Health Risk Likely pathogenic Charcot-Marie-Tooth disease, axonal
RS751134443 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS751136702 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Ehlers-Danlos syndrome
RS751137584 MYH3 Health Risk Conflicting classifications of pathogenicity Freeman-Sheldon syndrome, Distal arthrogryposis type 2B1
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