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
RS1875378128 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS187540602 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS187541686 BDP1 Health Risk Conflicting classifications of pathogenicity BDP1-related disorder, BDP1-related disorder
RS1875421510 CDK8 Health Risk Pathogenic Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS1875421918 CDK8 Health Risk Likely pathogenic Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS1875422697 CDK8 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS1875450525 SMARCC2 Health Risk Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS187546086 WDR19 Health Risk Conflicting classifications of pathogenicity Asphyxiating thoracic dystrophy 5, Cranioectodermal dysplasia 4
RS187547429 COPA Health Risk Conflicting classifications of pathogenicity Autoimmune interstitial lung disease-arthritis syndrome, Inborn genetic diseases
RS187547495 KRT3 Health Risk Conflicting classifications of pathogenicity —
RS187551830 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS187552025 CNTNAP2 Health Risk Conflicting classifications of pathogenicity Cortical dysplasia-focal epilepsy syndrome, Inborn genetic diseases
RS187553035 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS187553791 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS187555378 UMOD Health Risk Conflicting classifications of pathogenicity Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS187556243 THPO Health Risk Conflicting classifications of pathogenicity Thrombocythemia 1, Thrombocytopenia 9
RS187556554 RHBDF2 Health Risk Conflicting classifications of pathogenicity Palmoplantar keratoderma-esophageal carcinoma syndrome, Palmoplantar keratoderma-esophageal carcinoma syndrome
RS187558439 SCN9A Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS187563594 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS187569997 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS187571979 ITPR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Spinocerebellar ataxia type 29
RS187572602 LPIN2 Health Risk Conflicting classifications of pathogenicity Majeed syndrome, Autoinflammatory syndrome
RS187584458 LRPPRC Health Risk Conflicting classifications of pathogenicity Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
RS187585108 PTH1R Health Risk Conflicting classifications of pathogenicity —
RS187587197 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1875933090 SETD1B Health Risk Likely pathogenic —
RS187594197 TRAPPC9 Health Risk Conflicting classifications of pathogenicity —
RS187595147 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS1875984331 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS187600102 UPF3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic X-linked intellectual disability 14
RS187601452 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS187602609 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1876081310 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young type 3
RS187608290 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS1876084046 HNF1A Health Risk Pathogenic/Likely pathogenic Maturity-onset diabetes of the young, Maturity-onset diabetes of the young type 3
RS187613754 SPTAN1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 5
RS1876139497 MED13L Health Risk Pathogenic —
RS1876147349 MED13L Health Risk Conflicting classifications of pathogenicity Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1876150289 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS187617705 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS1876191880 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS1876205424 ATP2B1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 30
RS187626415 DNHD1 Health Risk Pathogenic Spermatogenic failure 65, Spermatogenic failure 65
RS1876288355 NUP107 Health Risk Likely pathogenic —
RS187631847 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS187632363 RYR3 Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS187632918 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1876334453 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS187637689 PRDM5 Health Risk Conflicting classifications of pathogenicity Brittle cornea syndrome 2, Cardiovascular phenotype
RS187641148 FGB Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Congenital afibrinogenemia
RS1876438936 COL4A1 Health Risk Pathogenic Microangiopathy and leukoencephalopathy, pontine
RS1876439052 COL4A1 Health Risk Likely pathogenic Microangiopathy and leukoencephalopathy, pontine
RS187648086 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS187648591 HSPG2 Health Risk Conflicting classifications of pathogenicity Schwartz-Jampel syndrome, Lethal Kniest-like syndrome
RS1876520009 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Dextro-looped transposition of the great arteries
RS1876522232 MED13L Health Risk Likely pathogenic MED13L-related disorder, MED13L-related disorder
RS187652566 ABCA1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1876543576 COL4A1 Health Risk Pathogenic Brain small vessel disease 1 with or without ocular anomalies, See cases
RS187657721 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome 12, Long QT syndrome 12
RS187658135 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Inborn genetic diseases
RS1876610129 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS1876618843 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS187662524 EARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome, Inborn genetic diseases
RS1876626818 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1876627337 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1876628530 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1876628624 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS1876629983 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Inborn genetic diseases
RS1876667856 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS1876669134 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1876669962 HNF1A Health Risk Likely pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS1876671395 HNF1A Health Risk Likely pathogenic Diabetes mellitus, Maturity-onset diabetes of the young
RS187667255 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS1876675633 HNF1A Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS187668158 PNPLA2 Health Risk Conflicting classifications of pathogenicity Neutral lipid storage myopathy, Inborn genetic diseases
RS1876739249 SMARCC2 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS187676082 FAM111A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS187677159 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, Perlman syndrome
RS1876803958 HMGA2 Health Risk Pathogenic Silver-Russell syndrome 5, Silver-Russell syndrome 5
RS1876853109 MED13L Health Risk Pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS187685447 SLC25A15 Health Risk Conflicting classifications of pathogenicity Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1876855942 MED13L Health Risk Likely pathogenic Cardiac anomalies - developmental delay - facial dysmorphism syndrome, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS1876857794 MED13L Health Risk Conflicting classifications of pathogenicity MED13L-related disorder, Dextro-looped transposition of the great arteries
RS187686630 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS1876893450 MED13L Health Risk Pathogenic Inborn genetic diseases, Cardiac anomalies - developmental delay - facial dysmorphism syndrome
RS187690169 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Inborn genetic diseases
RS1876909996 RDH5 Health Risk Pathogenic —
RS1876913255 RDH5 Health Risk Likely pathogenic Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS187691546 GRIP1 Health Risk Conflicting classifications of pathogenicity GRIP1-related disorder, GRIP1-related disorder
RS1876916255 RDH5 Health Risk Pathogenic —
RS1876920040 SETD1B Health Risk Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS1876922399 SETD1B Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with seizures and language delay, Inborn genetic diseases
RS1876936419 HNF1A Health Risk Likely pathogenic —
RS1876937295 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS187694846 SLC26A5 Health Risk Likely pathogenic —
RS187695569 FAM161A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 28, Retinitis pigmentosa
RS187695583 ABCA1 Health Risk Conflicting classifications of pathogenicity Tangier disease, Hypoalphalipoproteinemia
RS1876968297 HNF1A Health Risk Pathogenic HNF1A-related disorder, HNF1A-related disorder
RS187699090 SEC23B Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type II
RS187699322 NBEAL2 Health Risk Conflicting classifications of pathogenicity —
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