SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS990176353 MYH9 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 17, Autosomal dominant nonsyndromic hearing loss 17
RS990185904 MAK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS990187694 COL17A1 Health Risk Likely pathogenic —
RS990193541 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Ovarian cancer
RS990205047 ABCA12 Health Risk Likely pathogenic —
RS990221330 CDK13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS990229301 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Inborn genetic diseases
RS990257446 CPLANE1 Health Risk Pathogenic Orofaciodigital syndrome type 6, Orofaciodigital syndrome type 6
RS990307718 NR2E3 Health Risk Pathogenic/Likely pathogenic Enhanced S-cone syndrome, Enhanced S-cone syndrome
RS990308427 TTLL5 Health Risk Likely pathogenic —
RS990322697 ACADS Health Risk Pathogenic/Likely pathogenic Deficiency of butyryl-CoA dehydrogenase, Deficiency of butyryl-CoA dehydrogenase
RS990367646 ANOS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS990374215 MYH3 Health Risk Likely pathogenic See cases, See cases
RS990377209 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiovascular phenotype
RS990382620 NEB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Nemaline myopathy 2
RS990403391 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS990403823 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS990411562 FREM1 Health Risk Pathogenic/Likely pathogenic BNAR syndrome, BNAR syndrome
RS9904366 UNC13D Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 3, Autoinflammatory syndrome
RS990453651 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS990457690 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 4A, Congenital myasthenic syndrome 4B
RS990505166 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS990508855 DONSON Health Risk Pathogenic See cases, See cases
RS990512900 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS990533400 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS990536521 PLCB1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 12
RS990617336 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, Immunodeficiency 51
RS990621046 SUZ12 Health Risk Likely pathogenic —
RS990633116 IMPG2 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS990648341 TAFAZZIN Health Risk Conflicting classifications of pathogenicity 3-Methylglutaconic aciduria type 2, Cardiovascular phenotype
RS990650403 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS990673168 MAP2K1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, RASopathy
RS990678342 RPGRIP1L Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS990682639 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 1, von Willebrand disease type 2
RS990732816 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS990745079 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS990763738 MRPS14 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation deficiency 38, Combined oxidative phosphorylation deficiency 38
RS990825035 MYO5B Health Risk Pathogenic —
RS990830655 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS990847012 FKRP Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2I
RS9908476 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 9
RS990850363 TOGARAM1 Health Risk Likely pathogenic —
RS990860262 KATNIP Health Risk Likely pathogenic KATNIP-related disorder, KATNIP-related disorder
RS990867212 AHDC1 Health Risk Conflicting classifications of pathogenicity —
RS990873729 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS990876732 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS990897688 PIEZO1 Health Risk Likely pathogenic —
RS990927651 GLIS2 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 7, Nephronophthisis
RS990931567 RYR1 Health Risk Pathogenic Centronuclear myopathy, Centronuclear myopathy
RS990935995 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS990954323 PKP2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS990955357 MKS1 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS990974705 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS990982191 PIEZO2 Health Risk Likely pathogenic Gordon syndrome, Gordon syndrome
RS991002466 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS991077121 NOBOX Health Risk Likely pathogenic NOBOX-related disorder, NOBOX-related disorder
RS991082382 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS991089005 RAG1 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS991104525 ARSB Health Risk Pathogenic Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS9911283 TOP3A Health Risk Conflicting classifications of pathogenicity Microcephaly, growth restriction
RS991151770 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS991155397 SRCAP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS991187915 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS991189007 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Hemorrhage
RS991227431 IGHMBP2 Health Risk Pathogenic Autosomal recessive distal spinal muscular atrophy 1, Charcot-Marie-Tooth disease axonal type 2S
RS991237227 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS991290069 PROK2 Health Risk Likely pathogenic PROK2-related disorder, PROK2-related disorder
RS991322091 RMRP Health Risk Conflicting classifications of pathogenicity Anauxetic dysplasia, RMRP-related disorder
RS991360358 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS991365297 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS991366882 PNPT1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 70, Autosomal recessive nonsyndromic hearing loss 70
RS991392838 ARID1B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS991397214 NTRK1 Health Risk Conflicting classifications of pathogenicity Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS991404661 RTTN Health Risk Pathogenic —
RS991405942 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS9915768 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS9915769 KCNJ2 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS991580368 EYS Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS991583405 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS991596636 XRCC4 Health Risk Likely pathogenic Short stature, microcephaly
RS991612107 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS991616868 PIP5K1C Health Risk Pathogenic PIP5K1C-related neurodevelopmental disorder, Inborn genetic diseases
RS991634550 CUL3 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without autism or seizures, Pseudohypoaldosteronism type 2E
RS991657581 KMT2B Health Risk Conflicting classifications of pathogenicity —
RS991672013 ESCO2 Health Risk Pathogenic Juberg-Hayward syndrome, Roberts-SC phocomelia syndrome
RS991680454 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS991693986 AP4E1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia
RS991714565 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS991726607 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS991727453 OCRL Health Risk Conflicting classifications of pathogenicity Lowe syndrome, Lowe syndrome
RS991738444 CHD8 Health Risk Pathogenic Inborn genetic diseases, CHD8-related disorder
RS991751038 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS991789621 SEPSECS Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 2D, Pontocerebellar hypoplasia type 2D
RS991806266 RNU4ATAC Health Risk Conflicting classifications of pathogenicity Roifman syndrome, Roifman syndrome
RS991828802 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS991842796 CNTNAP2 Health Risk Pathogenic Cortical dysplasia-focal epilepsy syndrome, Cortical dysplasia-focal epilepsy syndrome
RS991930637 RBM20 Health Risk Pathogenic Dilated cardiomyopathy 1DD, Dilated cardiomyopathy 1DD
RS991947073 GRIN2D Health Risk Conflicting classifications of pathogenicity —
RS991950983 AGA Health Risk Pathogenic Aspartylglucosaminuria, Aspartylglucosaminuria
RS991956504 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
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