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
RS150156962 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, PCNT-related disorder
RS150157112 L2HGDH Health Risk Conflicting classifications of pathogenicity L-2-hydroxyglutaric aciduria, Inborn genetic diseases
RS150157202 CFTR Health Risk Conflicting classifications of pathogenicity Cystic fibrosis, CFTR-related disorder
RS150158100 SCN4A Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 16, Potassium-aggravated myotonia
RS150158277 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS150159022 PTPRO Health Risk Conflicting classifications of pathogenicity PTPRO-related disorder, PTPRO-related disorder
RS150159444 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS150159583 JAK2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150159842 SLC52A3 Health Risk Conflicting classifications of pathogenicity Brown-Vialetto-van Laere syndrome 1, Inborn genetic diseases
RS150161574 PEX13 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 11A (Zellweger), PEX13-related disorder
RS150161751 RHOXF2 Health Risk Conflicting classifications of pathogenicity —
RS150162992 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS150164316 LRRC8A Health Risk Conflicting classifications of pathogenicity Agammaglobulinemia 5, autosomal dominant
RS150165253 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS150165484 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS150166497 ITGB4 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa with pyloric atresia, Inborn genetic diseases
RS150166679 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, HPS4-related disorder
RS150167013 TRAPPC12 Health Risk Conflicting classifications of pathogenicity TRAPPC12-related disorder, TRAPPC12-related disorder
RS150167601 CNTNAP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Gastric cancer
RS150167906 MIPEP Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
RS150168016 GJA5 Health Risk Conflicting classifications of pathogenicity Atrial fibrillation, familial
RS150168522 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS150170255 DNM1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150170739 GLI2 Health Risk Conflicting classifications of pathogenicity Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Holoprosencephaly 9
RS150171524 GLDC Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Glycine encephalopathy
RS150172393 KCNQ1 Health Risk Conflicting classifications of pathogenicity Congenital long QT syndrome, Long QT syndrome
RS150174842 STXBP2 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 5, Autoinflammatory syndrome
RS150175668 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Hereditary pulmonary alveolar proteinosis
RS150176097 GCH1 Health Risk Conflicting classifications of pathogenicity GTP cyclohydrolase I deficiency, Dystonia 5
RS150177278 BCKDHA Health Risk Conflicting classifications of pathogenicity Maple syrup urine disease, Maple syrup urine disease
RS150177807 LBR Health Risk Conflicting classifications of pathogenicity Greenberg dysplasia, Greenberg dysplasia
RS150177878 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS150180394 WRAP53 Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal recessive 3
RS150181059 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS150181226 CANT1 Health Risk Likely pathogenic Desbuquois dysplasia 1, Epiphyseal dysplasia
RS150181830 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS150182125 DNAI2 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS150182351 UTP4 Health Risk Conflicting classifications of pathogenicity Hereditary North American Indian childhood cirrhosis, Hereditary North American Indian childhood cirrhosis
RS150182714 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Brain small vessel disease 1 with or without ocular anomalies
RS150182811 MPZ Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 1B, Charcot-Marie-Tooth disease dominant intermediate D
RS150185067 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS150186051 DMXL1 Health Risk Conflicting classifications of pathogenicity —
RS150186077 PTCHD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150186509 PEX12 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 3A (Zellweger), Inborn genetic diseases
RS150187184 SDHAF2 Health Risk Conflicting classifications of pathogenicity Hereditary pheochromocytoma and paraganglioma, Hereditary cancer-predisposing syndrome
RS150188026 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS150188173 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS150188738 MYO18B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150189496 PKD1 Health Risk Conflicting classifications of pathogenicity PKD1-related disorder, Polycystic kidney disease
RS150190277 PLA2G6 Health Risk Conflicting classifications of pathogenicity Iron accumulation in brain, Infantile neuroaxonal dystrophy
RS150190899 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS150193069 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy
RS150193295 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150193775 TJP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150194093 JUP Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Naxos disease
RS150195368 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS150196545 ABCA12 Health Risk Conflicting classifications of pathogenicity Congenital ichthyosis of skin, ABCA12-related disorder
RS150197753 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS150197784 AMPD2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 9, Hereditary spastic paraplegia 63
RS150199251 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS150199729 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS150200531 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS150200872 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS150200902 TRAPPC9 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal recessive 13
RS150201462 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS150202288 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS150202544 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS150203483 SLC13A5 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 25
RS150203792 MMP13 Health Risk Conflicting classifications of pathogenicity —
RS150203950 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, ADAMTS10-related disorder
RS150205465 DDX41 Health Risk Conflicting classifications of pathogenicity DDX41-related hematologic malignancy predisposition syndrome, Inborn genetic diseases
RS150206751 TMC1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 7, Autosomal dominant nonsyndromic hearing loss 36
RS150207892 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS150208750 CHRND Health Risk Conflicting classifications of pathogenicity Lethal multiple pterygium syndrome, Congenital myasthenic syndrome
RS150209825 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS150213016 LAMB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Pierson syndrome
RS150213018 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS150213603 CUL7 Health Risk Conflicting classifications of pathogenicity 3M syndrome 1, 3M syndrome 1
RS150214409 NDUFS1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Mitochondrial complex I deficiency
RS150215092 EVC2 Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Inborn genetic diseases
RS150216454 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Inborn genetic diseases
RS150216540 HPS4 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome 4
RS150217523 MPI Health Risk Conflicting classifications of pathogenicity MPI-congenital disorder of glycosylation, MPI-congenital disorder of glycosylation
RS150218077 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS150219264 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS150219357 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS150219690 IFT74 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 40, Inborn genetic diseases
RS150221287 MCAM Health Risk Conflicting classifications of pathogenicity —
RS150221602 JAK2 Health Risk Conflicting classifications of pathogenicity Inherited susceptibility to asthma, Inherited susceptibility to asthma
RS150221689 ABCB6 Health Risk Conflicting classifications of pathogenicity Microphthalmia, isolated
RS150224718 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Macular degeneration
RS150225103 TCN2 Health Risk Conflicting classifications of pathogenicity Transcobalamin II deficiency, TCN2-related disorder
RS150225347 ALG9 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9-related disorder
RS150225486 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS150226594 ARHGEF10 Health Risk Conflicting classifications of pathogenicity Autosomal dominant slowed nerve conduction velocity, Autosomal dominant slowed nerve conduction velocity
RS150226817 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Hepatocellular carcinoma
RS150227073 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS150227130 PYCR1 Health Risk Conflicting classifications of pathogenicity Cutis laxa, Cutis laxa
RS150227461 KIF7 Health Risk Conflicting classifications of pathogenicity Acrocallosal syndrome, KIF7-related disorder
RS150229551 RPS26 Health Risk Pathogenic —
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