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
RS769827351 TUBGCP4 Health Risk Likely pathogenic —
RS769828573 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome 1
RS769828807 CDKN1B Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 4, Hereditary cancer-predisposing syndrome
RS769828883 C6 Health Risk Likely pathogenic —
RS769829272 TTN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiomyopathy
RS769829396 POMT2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2N, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
RS769830439 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769831427 PODXL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769832110 D2HGDH Health Risk Conflicting classifications of pathogenicity D2HGDH-related disorder, D-2-hydroxyglutaric aciduria 1
RS769832219 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, NPHP3-related Meckel-like syndrome
RS769833086 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS769833467 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769834604 COQ8B Health Risk Pathogenic Nephrotic syndrome, type 9
RS769834772 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS769834845 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS769835611 MEN1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS769836306 APOB Health Risk Pathogenic Hypercholesterolemia, autosomal dominant
RS769836316 RUNX2 Health Risk Pathogenic —
RS769836601 PEX1 Health Risk Pathogenic Peroxisome biogenesis disorder 1A (Zellweger), Peroxisome biogenesis disorder 1B
RS769837178 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS769837216 RIMS1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 7, Cone-rod dystrophy 7
RS769837716 SRCAP Health Risk Conflicting classifications of pathogenicity Floating-Harbor syndrome, Developmental delay
RS769837969 KIDINS220 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIDINS220-related disorder
RS769838164 APOB Health Risk Conflicting classifications of pathogenicity Familial hypobetalipoproteinemia 1, Hypercholesterolemia
RS769838859 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa
RS769839273 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS769840338 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS769840926 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS769841151 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS769841229 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS769841712 COL4A2 Health Risk Pathogenic —
RS769842211 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS769843030 PIGN Health Risk Pathogenic Multiple congenital anomalies-hypotonia-seizures syndrome 1, Multiple congenital anomalies-hypotonia-seizures syndrome 1
RS769843541 LORICRIN Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS769843989 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS769844369 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS769844428 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS769845659 CPAP Health Risk Conflicting classifications of pathogenicity Microcephaly 6, primary
RS769845921 TTLL5 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS769846362 MAT1A Health Risk Likely pathogenic —
RS769849072 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS769850351 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS769850502 DOK7 Health Risk Pathogenic/Likely pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS769850705 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS769850896 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS769851369 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS769852038 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Junctional epidermolysis bullosa with pyloric atresia
RS769852846 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, Inborn genetic diseases
RS769853271 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS769853739 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS769853972 TMPRSS15 Health Risk Conflicting classifications of pathogenicity Enterokinase deficiency, Enterokinase deficiency
RS769853984 WNT1 Health Risk Pathogenic —
RS769855266 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS769857006 GRIN2B Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 27
RS769857066 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS769857214 TBCD Health Risk Pathogenic —
RS769857818 MED12 Health Risk Conflicting classifications of pathogenicity FG syndrome, MED12-related disorder
RS769858478 CA4 Health Risk Likely pathogenic —
RS769858739 FIG4 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS769858809 ARV1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 38
RS769859243 MAK Health Risk Pathogenic —
RS769859376 PDE6B Health Risk Likely pathogenic —
RS769859957 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS769859976 SLC26A2 Health Risk Pathogenic/Likely pathogenic Multiple epiphyseal dysplasia type 4, Achondrogenesis
RS769861892 CLCN1 Health Risk Pathogenic Congenital myotonia, autosomal recessive form
RS769862233 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS769862471 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769863513 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Alport syndrome 3b
RS769863517 ABCA4 Health Risk Conflicting classifications of pathogenicity ABCA4-related disorder, ABCA4-related disorder
RS769864196 EVC2 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Type IV short rib polydactyly syndrome
RS769864947 ATP7B Health Risk Conflicting classifications of pathogenicity Wilson disease, Wilson disease
RS769865006 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS769865678 FLNC Health Risk Pathogenic Hypertrophic cardiomyopathy 26, Distal myopathy with posterior leg and anterior hand involvement
RS769866128 HEXA Health Risk Conflicting classifications of pathogenicity Tay-Sachs disease, Tay-Sachs disease
RS769866360 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS769866686 BBS9 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Inborn genetic diseases
RS769867380 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS769867566 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Cardiovascular phenotype
RS769868981 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS769869336 PAFAH1B1 Health Risk Conflicting classifications of pathogenicity —
RS769870573 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS769872031 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS769872474 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS769873284 NT5C2 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS769873428 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS769873625 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS769873702 C3 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 9, Atypical hemolytic-uremic syndrome with C3 anomaly
RS769875186 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS769875821 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS769876049 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS769876640 DNMT3A Health Risk Pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS769877492 LRTOMT Health Risk Pathogenic —
RS769877535 IL2RB Health Risk Conflicting classifications of pathogenicity —
RS769877978 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS769878576 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS769878611 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Inborn genetic diseases
RS769879897 CDH23 Health Risk Pathogenic —
RS769879940 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS769880462 LZTR1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hereditary cancer-predisposing syndrome
RS769881615 CUBN Health Risk Pathogenic/Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
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