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
RS144207910 COL4A1 Health Risk Conflicting classifications of pathogenicity COL4A1-related disorder, COL4A1-related disorder
RS144208043 BIVM-ERCC5;ERCC5 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group G
RS144208360 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144208673 TRPM4 Health Risk Conflicting classifications of pathogenicity Progressive familial heart block type IB, Cardiovascular phenotype
RS144209028 ETV6 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 5, Inborn genetic diseases
RS144209883 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS144209926 DOLK Health Risk Conflicting classifications of pathogenicity DK1-congenital disorder of glycosylation, Cardiovascular phenotype
RS1442099470 KDM6B Health Risk Pathogenic —
RS144209970 ENPP1 Health Risk Conflicting classifications of pathogenicity Hypopigmentation-punctate palmoplantar keratoderma syndrome, Type 2 diabetes mellitus
RS144210383 MPL Health Risk Conflicting classifications of pathogenicity Thrombocytopenia, Abnormal bleeding
RS144210857 MAGEC1 Health Risk Conflicting classifications of pathogenicity —
RS1442112970 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144211349 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS144211929 PHKB Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXb, Glycogen storage disease IXb
RS144214844 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS144215383 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS1442154422 PTPN11 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1442155934 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS144215747 FANCM Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Spermatogenic failure 28
RS1442158854 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS144216539 LARGE1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
RS144217005 UGT1A1 Health Risk Conflicting classifications of pathogenicity Lucey-Driscoll syndrome, Crigler-Najjar syndrome
RS144217211 BNC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144217347 M1AP Health Risk Conflicting classifications of pathogenicity Non-obstructive azoospermia, Spermatogenic failure 48
RS1442174846 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS144217506 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS144217555 ITM2B Health Risk Conflicting classifications of pathogenicity ITM2B-related disorder, ITM2B-related disorder
RS144218321 HERC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144219663 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144219953 DBH Health Risk Conflicting classifications of pathogenicity Orthostatic hypotension 1, DBH-related disorder
RS1442200771 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS144220751 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS144220755 GNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-D
RS1442212683 POLR3B Health Risk Conflicting classifications of pathogenicity Hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism, Charcot-Marie-Tooth disease
RS144222167 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Ovarian serous cystadenocarcinoma
RS144223411 FHOD3 Health Risk Conflicting classifications of pathogenicity FHOD3-related disorder, Cardiovascular phenotype
RS1442235176 ADGRV1 Health Risk Pathogenic —
RS144223596 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Collagen 6-related myopathy
RS144223843 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS144224179 FBXO11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144225009 DLG3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1442250413 ALPK3 Health Risk Pathogenic —
RS144225109 ENAM Health Risk Conflicting classifications of pathogenicity Amelogenesis imperfecta, Amelogenesis imperfecta
RS144226170 PLOD1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS1442262560 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS144226338 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, 6 conditions
RS1442286151 CNGB3 Health Risk Pathogenic Achromatopsia 3, Achromatopsia 3
RS144228661 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS144228973 SH3PXD2B Health Risk Conflicting classifications of pathogenicity Frank-Ter Haar syndrome, SH3PXD2B-related disorder
RS144229833 MMP9 Health Risk Conflicting classifications of pathogenicity Metaphyseal anadysplasia 2, Metaphyseal anadysplasia 2
RS144229867 PYGM Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type V
RS1442299125 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS144230304 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS1442303442 EVC2 Health Risk Pathogenic/Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS144230667 CPS1 Health Risk Conflicting classifications of pathogenicity Congenital hyperammonemia, type I
RS144231113 BEST1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Retinitis pigmentosa
RS1442321434 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia
RS1442324599 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1442330797 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS144233139 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Familial hemophagocytic lymphohistiocytosis 5
RS1442334401 COL17A1 Health Risk Likely pathogenic —
RS144234543 FMN1 Health Risk Conflicting classifications of pathogenicity FMN1-related disorder, FMN1-related disorder
RS144234582 TEX15 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 25, Spermatogenic failure 25
RS144235455 KMT2A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1442356585 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, See cases
RS1442363621 PROC Health Risk Conflicting classifications of pathogenicity —
RS144236383 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS144236612 SAMD9L Health Risk Conflicting classifications of pathogenicity Microcephaly, Monosomy 7 myelodysplasia and leukemia syndrome 1
RS144236614 CFAP43 Health Risk Conflicting classifications of pathogenicity CFAP43-related disorder, CFAP43-related disorder
RS1442366836 PCDH15 Health Risk Pathogenic/Likely pathogenic —
RS144237457 CENPF Health Risk Conflicting classifications of pathogenicity Stromme syndrome, Stromme syndrome
RS144238038 FBN3 Health Risk Conflicting classifications of pathogenicity FBN3-related disorder, FBN3-related disorder
RS144238478 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Inborn genetic diseases
RS144238669 NAGLU Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1442388532 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS1442388691 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS1442391429 SDHC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 3
RS144239254 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS1442406191 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS144241950 AMT Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Inborn genetic diseases
RS144242254 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS144242690 LAMC3 Health Risk Conflicting classifications of pathogenicity Hepatocellular carcinoma, Hepatocellular carcinoma
RS144242932 RARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pontocerebellar hypoplasia type 6
RS1442433909 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1442440961 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS144244239 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS144244281 KATNIP Health Risk Conflicting classifications of pathogenicity KATNIP-related disorder, KATNIP-related disorder
RS1442447298 MLH3 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, hereditary nonpolyposis
RS144245019 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS144245050 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS144245125 BSCL2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Hereditary spastic paraplegia
RS144245663 EP400 Health Risk Conflicting classifications of pathogenicity —
RS144245744 PLEKHG5 Health Risk Conflicting classifications of pathogenicity Neuronopathy, distal hereditary motor
RS1442457872 SDCCAG8 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS1442463591 SURF1 Health Risk Pathogenic Leigh syndrome, Leigh syndrome
RS1442471258 SAR1B Health Risk Pathogenic —
RS1442474244 IL23R Health Risk Conflicting classifications of pathogenicity —
RS144247888 GPHN Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases
RS144248214 SCN2B Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS144248516 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Inborn genetic diseases
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