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
RS1032858847 TUB Health Risk Pathogenic —
RS1032873228 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1032877391 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHD7-related disorder
RS1032878925 CLCN7 Health Risk Conflicting classifications of pathogenicity Osteopetrosis, Osteopetrosis
RS1032879686 ITGA2B Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1032930719 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS1032938979 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Hematuria
RS1032992615 L1CAM Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1033054565 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS1033059668 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1033092772 BCOR Health Risk Conflicting classifications of pathogenicity Oculofaciocardiodental syndrome, Inborn genetic diseases
RS1033093801 CAPN1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spastic paraplegia type 76, Hereditary spastic paraplegia 11
RS1033108057 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1033112015 SLC39A4 Health Risk Likely pathogenic —
RS1033126561 GANAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease 3 with or without polycystic liver disease
RS1033188876 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1033194020 CEBPA Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Inborn genetic diseases
RS1033207881 IDH3A Health Risk Likely pathogenic —
RS1033213070 COG5 Health Risk Conflicting classifications of pathogenicity COG5-congenital disorder of glycosylation, Inborn genetic diseases
RS1033214914 CACNA1A Health Risk Conflicting classifications of pathogenicity Episodic ataxia type 2, Developmental and epileptic encephalopathy
RS1033220280 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS1033229812 SON Health Risk Pathogenic —
RS1033235740 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS1033251181 MAGEL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, MAGEL2-related disorder
RS1033263382 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS1033270809 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS1033313360 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1033319065 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1033335294 LAMB3 Health Risk Conflicting classifications of pathogenicity —
RS1033348008 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1033353171 ERCC6 Health Risk Likely pathogenic —
RS1033402019 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1033427343 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1033442580 LAMP2 Health Risk Conflicting classifications of pathogenicity Danon disease, Cardiovascular phenotype
RS1033444972 ERCC2 Health Risk Pathogenic —
RS1033463168 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1033476644 JPH2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Cardiovascular phenotype
RS1033477931 PGM3 Health Risk Pathogenic/Likely pathogenic Immunodeficiency 23, Immunodeficiency 23
RS1033490064 ABCB11 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS1033533679 MYOC Health Risk Likely pathogenic Glaucoma 1, open angle
RS1033545876 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1033577592 ATP2B1 Health Risk Pathogenic Neurodevelopmental disorder, Intellectual developmental disorder
RS1033586067 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Papillary renal cell carcinoma type 1
RS1033594764 CEP290 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS1033630760 KLC4 Health Risk Likely pathogenic —
RS1033649515 HSD17B4 Health Risk Conflicting classifications of pathogenicity Bifunctional peroxisomal enzyme deficiency, Perrault syndrome
RS1033651300 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1033653237 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS1033681137 KCNV2 Health Risk Pathogenic —
RS1033693138 SRGAP3 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS1033708386 VSX2 Health Risk Pathogenic Isolated microphthalmia 2, Isolated microphthalmia 2
RS1033725987 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1033726905 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Glycogen storage disease IXd
RS1033730754 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS1033739107 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS1033747538 MFRP Health Risk Pathogenic Isolated microphthalmia 5, Isolated microphthalmia 5
RS1033749344 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS1033766338 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS1033803342 PCDH15 Health Risk Pathogenic —
RS1033836182 COL5A2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS1033887530 CAPN1 Health Risk Likely pathogenic Autosomal recessive spastic paraplegia type 76, Autosomal recessive spastic paraplegia type 76
RS1033911248 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS1033915282 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS1033918125 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS1033920857 PROM1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinitis pigmentosa 41
RS1033921573 LAMA3 Health Risk Pathogenic —
RS1033941048 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS1033946108 UFM1 Health Risk Likely pathogenic Leukodystrophy, hypomyelinating
RS1033990351 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1033998490 ATL1 Health Risk Likely pathogenic —
RS1034078411 HPS1 Health Risk Pathogenic —
RS1034084415 EGFR Health Risk Likely pathogenic EGFR-related lung cancer, EGFR-related lung cancer
RS1034099077 CSGALNACT1 Health Risk Pathogenic Skeletal dysplasia, mild
RS1034113927 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1034133545 LAMA2 Health Risk Pathogenic/Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS1034155331 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS1034185619 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1034207896 HBB Health Risk Conflicting classifications of pathogenicity —
RS1034235291 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS1034243338 COL9A1 Health Risk Pathogenic —
RS1034268466 TAB2 Health Risk Pathogenic TAB2-related disorder, TAB2-related disorder
RS1034284582 BRWD3 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 93
RS1034291686 NTHL1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, NTHL1-related disorder
RS1034327724 RSPH4A Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 11
RS1034350880 PPP1R12A Health Risk Likely pathogenic —
RS1034356533 TRDN Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1034391830 HMBS Health Risk Pathogenic —
RS1034395084 TTLL5 Health Risk Pathogenic —
RS1034395178 LZTR1 Health Risk Pathogenic Noonan syndrome 2, Cardiovascular phenotype
RS1034436638 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS1034459470 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Inborn genetic diseases
RS1034464770 GRM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1034483511 FLNC Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS1034487400 CSF3R Health Risk Likely pathogenic —
RS1034492140 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Dilated cardiomyopathy 1G
RS1034508175 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS1034528249 QDPR Health Risk Pathogenic/Likely pathogenic Dihydropteridine reductase deficiency, Dihydropteridine reductase deficiency
RS1034532622 ZNF687 Health Risk Conflicting classifications of pathogenicity —
RS1034545913 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS1034551306 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
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