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
RS144767461 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS144768593 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS1447687114 PIGB Health Risk Pathogenic —
RS1447689394 HSD17B4 Health Risk Pathogenic/Likely pathogenic Bifunctional peroxisomal enzyme deficiency, Bifunctional peroxisomal enzyme deficiency
RS144769112 APPL1 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 14, Maturity-onset diabetes of the young type 14
RS144769485 MPL Health Risk Conflicting classifications of pathogenicity Congenital amegakaryocytic thrombocytopenia, Essential thrombocythemia
RS1447702013 B3GAT3 Health Risk Pathogenic Larsen-like syndrome, B3GAT3 type
RS1447704776 PPM1D Health Risk Likely pathogenic —
RS144770680 ANKRD1 Health Risk Conflicting classifications of pathogenicity ANKRD1-related dilated cardiomyopathy, Cardiomyopathy
RS144770820 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS1447722708 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS144772281 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS144772325 SON Health Risk Conflicting classifications of pathogenicity ZTTK syndrome, SON-related disorder
RS144772706 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS144772738 FHDC1 Health Risk Conflicting classifications of pathogenicity —
RS1447727878 GLDC Health Risk Pathogenic/Likely pathogenic Glycine encephalopathy, Glycine encephalopathy 1
RS144773853 SBF1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B3, Charcot-Marie-Tooth disease
RS144774906 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS1447749222 AMPD1 Health Risk Conflicting classifications of pathogenicity Muscle AMP deaminase deficiency, Muscle AMP deaminase deficiency
RS144775475 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS144775787 TCIRG1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive osteopetrosis 1, Inborn genetic diseases
RS144775920 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS144775948 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS144776112 MSH3 Health Risk Conflicting classifications of pathogenicity —
RS144776270 GALNT3 Health Risk Conflicting classifications of pathogenicity Tumoral calcinosis, hyperphosphatemic
RS144776609 IFT43 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1447774727 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS144777676 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital myopathy with fiber type disproportion
RS144777687 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS144777709 MTR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblG
RS1447794153 RPS19 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 1, Diamond-Blackfan anemia
RS144779737 SLC9A9 Health Risk Conflicting classifications of pathogenicity —
RS144779807 TERT Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 2
RS1447799185 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS144781064 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS144781529 TRPM4 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Progressive familial heart block type IB
RS144781697 DSP Health Risk Pathogenic Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS144781761 LAMA5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144781935 AGRN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 8, Inborn genetic diseases
RS1447821588 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS144782720 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144782810 SALL1 Health Risk Conflicting classifications of pathogenicity Townes syndrome, Inborn genetic diseases
RS144783536 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, WFS1-related disorder
RS144783615 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, USH2A-related disorder
RS1447842872 NPHS1 Health Risk Pathogenic —
RS144784912 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS144785317 ARHGAP24 Health Risk Conflicting classifications of pathogenicity —
RS144785726 MYH8 Health Risk Conflicting classifications of pathogenicity —
RS144786467 THBS1 Health Risk Conflicting classifications of pathogenicity —
RS144786630 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS1447874899 NODAL Health Risk Pathogenic Heterotaxy, visceral
RS144787579 SPTBN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1447882843 CNNM4 Health Risk Pathogenic —
RS1447883891 HNF1A Health Risk Pathogenic —
RS144788470 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS144788669 MVK Health Risk Conflicting classifications of pathogenicity Hyperimmunoglobulin D with periodic fever, Porokeratosis 3
RS144788938 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Epidermolysis bullosa dystrophica inversa
RS1447891498 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS144790966 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS1447914513 CFTR Health Risk Conflicting classifications of pathogenicity CFTR-related disorder, Cystic fibrosis
RS144791627 GORAB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS144792471 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS144792551 PAX4 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, PAX4-related disorder
RS144792604 ANO3 Health Risk Conflicting classifications of pathogenicity Dystonic disorder, Dystonia 24
RS144792613 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1447936042 SLC2A2 Health Risk Pathogenic/Likely pathogenic Fanconi-Bickel syndrome, Type 2 diabetes mellitus
RS1447943740 FANCD2 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group D2, Fanconi anemia
RS144794596 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS144795487 COL4A1 Health Risk Likely pathogenic —
RS144797408 NUP205 Health Risk Conflicting classifications of pathogenicity NUP205-related disorder, NUP205-related disorder
RS144797744 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS144797861 COL1A2 Health Risk Conflicting classifications of pathogenicity 6 conditions, Osteogenesis imperfecta
RS144798521 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS144798973 EFTUD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1447997408 ADAMTS17 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani 4 syndrome, recessive
RS144799937 DSC2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS144799994 DNAH9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1448001502 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS144800506 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, OTOF-related disorder
RS144800583 RASGRP2 Health Risk Conflicting classifications of pathogenicity —
RS144800865 ECHS1 Health Risk Conflicting classifications of pathogenicity Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency, Mitochondrial short-chain Enoyl-Coa hydratase 1 deficiency
RS144801319 CAD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, CAD-related disorder
RS144801620 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, COL6A2-related disorder
RS1448018291 IL7R Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS144803359 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Coffin-Siris syndrome
RS144803819 CRB2 Health Risk Conflicting classifications of pathogenicity CRB2-related disorder, CRB2-related disorder
RS144803840 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS1448040082 SGCB Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS144804175 ITGB4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Junctional epidermolysis bullosa with pyloric atresia
RS144804269 FAM149B1 Health Risk Likely pathogenic Joubert syndrome 36, Joubert syndrome 36
RS144804884 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS1448052777 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS144805659 CEP104 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 25, Inborn genetic diseases
RS1448061146 RPE65 Health Risk Pathogenic Retinitis pigmentosa 20, Leber congenital amaurosis 2
RS144806140 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiovascular phenotype
RS144806671 MYLK Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 7
RS144807262 BPTF Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
RS144807538 MYH9 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 17, MYH9-related disorder
RS1448078371 IDH3B Health Risk Pathogenic —
RS144808448 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Upshaw-Schulman syndrome, Upshaw-Schulman syndrome
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