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
RS146223579 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1462240441 MAP2K1 Health Risk Conflicting classifications of pathogenicity Cardiofaciocutaneous syndrome 3, RASopathy
RS146224907 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS1462252996 UNC13D Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 3, Familial hemophagocytic lymphohistiocytosis 3
RS146225600 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS146225813 LAMA4 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1JJ, Cardiovascular phenotype
RS146225943 COQ8B Health Risk Conflicting classifications of pathogenicity COQ8B-related disorder, COQ8B-related disorder
RS1462263214 CHD8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146226591 TCOF1 Health Risk Conflicting classifications of pathogenicity Treacher Collins syndrome 1, Inborn genetic diseases
RS146227450 GRHPR Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type II
RS146227863 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS146227896 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS146227929 CUL7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CUL7-related disorder
RS1462279583 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS146228503 EIF2B2 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Vanishing white matter disease
RS146228576 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1462285903 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS1462287670 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS146229269 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS1462293293 ACAD9 Health Risk Conflicting classifications of pathogenicity Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS146229425 COG6 Health Risk Conflicting classifications of pathogenicity COG6-congenital disorder of glycosylation, Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
RS146229976 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146230559 SBF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4B2
RS146231118 MACF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1462312032 APC Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS1462312043 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS1462319941 WASHC5 Health Risk Pathogenic Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
RS146232504 KDM5C Health Risk Likely pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS146232611 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS146233833 CASP10 Health Risk Conflicting classifications of pathogenicity Autoimmune lymphoproliferative syndrome type 2A, Autoimmune lymphoproliferative syndrome type 2A
RS146234310 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, 7 conditions
RS1462350577 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS146235320 KL Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS146235694 EPOR Health Risk Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS146235767 BCL11A Health Risk Conflicting classifications of pathogenicity Dias-Logan syndrome, Inborn genetic diseases
RS146235874 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TRAPPC9-related disorder
RS1462360035 GBF1 Health Risk Likely pathogenic —
RS146236436 IARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS146236493 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1462368992 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS1462369239 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS146237009 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS146237774 RAPSN Health Risk Conflicting classifications of pathogenicity Fetal akinesia deformation sequence 1, Congenital myasthenic syndrome 11
RS146238336 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS146238429 AVPR2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS146238548 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Neonatal diabetes mellitus with congenital hypothyroidism
RS146238585 AMBN Health Risk Pathogenic Amelogenesis imperfecta type 1F, Amelogenesis imperfecta type 1F
RS146238726 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1462393364 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS146239968 GPD1 Health Risk Conflicting classifications of pathogenicity Transient infantile hypertriglyceridemia and hepatosteatosis, GPD1-related disorder
RS146240060 PDZD2 Health Risk Conflicting classifications of pathogenicity PDZD2-related disorder, PDZD2-related disorder
RS146240471 SPG11 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 5, Hereditary spastic paraplegia 11
RS146240568 CRX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Leber congenital amaurosis 7
RS146241522 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS146241932 BPTF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1462421304 POLR3A Health Risk Likely pathogenic —
RS146242514 SERPINA7 Health Risk Conflicting classifications of pathogenicity SERPINA7-related disorder, SERPINA7-related disorder
RS146242836 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS146243018 GATA6 Health Risk Conflicting classifications of pathogenicity Atrioventricular septal defect 5, Inborn genetic diseases
RS146243145 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, AGRN-related disorder
RS1462431994 KRIT1 Health Risk Likely pathogenic KRIT1-related disorder, KRIT1-related disorder
RS146243469 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1462435314 EYS Health Risk Pathogenic —
RS1462442081 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS146244669 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS1462448145 DICER1 Health Risk Likely pathogenic DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1462451206 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
RS146245319 SEMA4G Health Risk Conflicting classifications of pathogenicity —
RS146245480 NEXN Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 20, Primary familial hypertrophic cardiomyopathy
RS146245515 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, MYO15A-related disorder
RS1462456361 PNPLA8 Health Risk Pathogenic Mitochondrial myopathy-lactic acidosis-deafness syndrome, Mitochondrial myopathy-lactic acidosis-deafness syndrome
RS1462459648 ERCC8 Health Risk Conflicting classifications of pathogenicity —
RS1462460124 POLR3A Health Risk Pathogenic Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS1462463299 HLCS Health Risk Likely pathogenic Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS1462468885 ABCC9 Health Risk Conflicting classifications of pathogenicity Hypertrichotic osteochondrodysplasia Cantu type, Dilated cardiomyopathy 1O
RS146247063 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1462472677 ACADM Health Risk Conflicting classifications of pathogenicity Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS146248068 COG8 Health Risk Conflicting classifications of pathogenicity COG8-congenital disorder of glycosylation, COG8-related disorder
RS1462490364 JAG1 Health Risk Conflicting classifications of pathogenicity Alagille syndrome due to a JAG1 point mutation, Cardiovascular phenotype
RS1462498220 CDH23 Health Risk Pathogenic —
RS146249964 MPL Health Risk Pathogenic/Likely pathogenic Congenital amegakaryocytic thrombocytopenia, Thrombocytopenia
RS146249973 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS146250176 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS146250226 NPHP3 Health Risk Conflicting classifications of pathogenicity NPHP3-related Meckel-like syndrome, Renal-hepatic-pancreatic dysplasia 1
RS1462503482 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS146250423 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, CBL-related disorder
RS146251034 OFD1 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome I, Joubert syndrome
RS146251364 STUB1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 16, Inborn genetic diseases
RS146252067 SERPINB6 Health Risk Conflicting classifications of pathogenicity —
RS146252218 PLA2G6 Health Risk Conflicting classifications of pathogenicity Infantile neuroaxonal dystrophy, PLA2G6-associated neurodegeneration
RS1462522184 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS146253044 SLC24A1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS1462537561 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1462542158 DHDDS Health Risk Conflicting classifications of pathogenicity Developmental delay and seizures with or without movement abnormalities, Retinitis pigmentosa 59
RS146254972 PSMB8 Health Risk Pathogenic/Likely pathogenic Proteasome-associated autoinflammatory syndrome 1, Proteosome-associated autoinflammatory syndrome
RS146255464 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS1462559161 ALDH18A1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal dominant 3
RS1462559571 ABCC8 Health Risk Conflicting classifications of pathogenicity Familial hyperinsulinism, Hyperinsulinemic hypoglycemia
RS146256526 RP1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS146257403 TSPEAR Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 98, Autosomal recessive nonsyndromic hearing loss 98
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