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
RS1473576494 COL12A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS147358733 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, ALDH5A1-related disorder
RS147358856 PCNT Health Risk Conflicting classifications of pathogenicity PCNT-related disorder, Microcephalic osteodysplastic primordial dwarfism type II
RS1473590912 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS147359883 RUNX2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1473611414 ALMS1 Health Risk Pathogenic/Likely pathogenic Alstrom syndrome, Bardet-Biedl syndrome
RS147361273 FAM111A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1473613198 PHIP Health Risk Pathogenic —
RS1473613373 SETX Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia, autosomal recessive
RS1473615786 KMT2E Health Risk Conflicting classifications of pathogenicity —
RS147362398 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS1473633538 LARS1 Health Risk Likely pathogenic —
RS1473648816 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1473651696 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1473654961 GOT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 82
RS1473659802 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS147366111 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Nephronophthisis 8, Joubert syndrome 7
RS147366706 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS147366714 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS1473668614 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS147366981 PRSS1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS1473673298 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, Porencephaly 2
RS147367441 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS147367593 MTHFD1 Health Risk Conflicting classifications of pathogenicity Neural tube defects, folate-sensitive
RS147368550 ILK Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Primary familial hypertrophic cardiomyopathy
RS1473686155 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS1473689787 SLC34A3 Health Risk Pathogenic —
RS147369196 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Spastic paraplegia
RS1473693007 CBL Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS147369374 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, Generalized epilepsy-paroxysmal dyskinesia syndrome
RS147370143 MMADHC Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylmalonic aciduria and homocystinuria type cblD
RS147370522 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular dysplasia 12
RS147371584 PISD Health Risk Conflicting classifications of pathogenicity PISD-related mitochondrial disease, Liberfarb syndrome
RS147371835 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS147371999 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel syndrome, type 4
RS1473720483 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS147372374 PDE6B Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS147372600 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS147372931 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Retinal dystrophy
RS147373250 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS147374057 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Retinitis pigmentosa 39
RS147375807 PNPT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147375994 INPP5K Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy with cataracts and intellectual disability, INPP5K-related disorder
RS147376000 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Autosomal recessive nonsyndromic hearing loss 30
RS147376687 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS147377392 THBD Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome with thrombomodulin anomaly, Thrombomodulin-related bleeding disorder
RS147377474 DSG1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147378590 KCNMA1 Health Risk Conflicting classifications of pathogenicity Generalized epilepsy-paroxysmal dyskinesia syndrome, KCNMA1-related disorder
RS1473793687 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS147379553 ZNF423 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 14, Nephronophthisis 14
RS147379975 PODXL Health Risk Conflicting classifications of pathogenicity PODXL-related disorder, Inborn genetic diseases
RS147381048 FASTKD2 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex IV deficiency, nuclear type 1
RS1473818298 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS147382463 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS147382769 CTNNB1 Health Risk Conflicting classifications of pathogenicity CTNNB1-related disorder, Inborn genetic diseases
RS1473836469 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia
RS147383873 CCDC39 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS1473851511 GALT Health Risk Likely pathogenic Galactosemia, Galactosemia
RS147385529 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, SALL4-related disorder
RS1473856167 GLDC Health Risk Conflicting classifications of pathogenicity Glycine encephalopathy, Glycine encephalopathy 1
RS1473858573 PEX1 Health Risk Conflicting classifications of pathogenicity Zellweger spectrum disorders, Zellweger spectrum disorders
RS1473859981 PYCR2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 10, Hypomyelinating leukodystrophy 10
RS1473874262 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS147387453 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS147387582 ADGRE2 Health Risk Conflicting classifications of pathogenicity ADGRE2-related disorder, ADGRE2-related disorder
RS1473881269 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1473886214 SLITRK5 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS147388782 CIT Health Risk Conflicting classifications of pathogenicity —
RS147389443 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1473896815 GAMT Health Risk Pathogenic Cerebral creatine deficiency syndrome, Deficiency of guanidinoacetate methyltransferase
RS147389938 CPT1A Health Risk Conflicting classifications of pathogenicity Carnitine palmitoyl transferase 1A deficiency, Inborn genetic diseases
RS147390654 SLC4A1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 4, Autosomal dominant distal renal tubular acidosis
RS147390699 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1473909084 NPC1 Health Risk Likely pathogenic Niemann-Pick disease, type C1
RS1473911378 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS147391291 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS1473913549 HPS1 Health Risk Pathogenic —
RS147391618 RARS2 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 6, Inborn genetic diseases
RS147391967 TNNI3K Health Risk Conflicting classifications of pathogenicity TNNI3K-related disorder, Inborn genetic diseases
RS147392278 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS147392679 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS147393144 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS147393483 CR2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS1473936270 SYNE1 Health Risk Pathogenic Autosomal recessive ataxia, Beauce type
RS147393700 TYROBP Health Risk Conflicting classifications of pathogenicity Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, TYROBP-related disorder
RS147393830 TBX20 Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1473942366 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS147394539 APC Health Risk Conflicting classifications of pathogenicity Colorectal adenoma, Familial adenomatous polyposis 1
RS147394623 DHDDS Health Risk Pathogenic Retinitis pigmentosa 59, Developmental delay and seizures with or without movement abnormalities
RS147394910 IFT172 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 10 with or without polydactyly, Retinitis pigmentosa 71
RS147394986 BSND Health Risk Conflicting classifications of pathogenicity Bartter syndrome, Inborn genetic diseases
RS1473949861 GLMN Health Risk Pathogenic —
RS147395180 ARHGEF10 Health Risk Conflicting classifications of pathogenicity —
RS147395404 KRT74 Health Risk Conflicting classifications of pathogenicity —
RS147396061 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Inborn genetic diseases
RS147397431 MYH6 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 14
RS147397532 CDH15 Health Risk Conflicting classifications of pathogenicity —
RS147397866 TMPRSS6 Health Risk Conflicting classifications of pathogenicity Microcytic anemia, TMPRSS6-related disorder
RS147397994 SPG7 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 7, Hereditary spastic paraplegia 7
RS147398525 CATSPER1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 7, Spermatogenic failure 7
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