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
RS199600077 ODAD1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 20
RS199600413 ASXL2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199600701 TFR2 Health Risk Conflicting classifications of pathogenicity Hereditary hemochromatosis, Hemochromatosis type 3
RS199601218 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS199601240 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS199601326 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS199601548 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular cardiomyopathy, Arrhythmogenic right ventricular dysplasia 9
RS199602365 PRDM5 Health Risk Conflicting classifications of pathogenicity Connective tissue disorder, Cardiovascular phenotype
RS199602894 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS199603042 SH3TC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS199603131 SETBP1 Health Risk Conflicting classifications of pathogenicity —
RS199603175 PTS Health Risk Likely pathogenic 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency, 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
RS199603472 DNAH1 Health Risk Conflicting classifications of pathogenicity Ciliary dyskinesia, primary
RS199603614 SHROOM4 Health Risk Conflicting classifications of pathogenicity —
RS199603690 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199603762 COPB2 Health Risk Conflicting classifications of pathogenicity —
RS199603948 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS199604072 PCCA Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS199604280 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199604463 IL10RA Health Risk Conflicting classifications of pathogenicity Inflammatory bowel disease 28, IL10RA-related disorder
RS199604464 KIAA1549 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, KIAA1549-related disorder
RS199604590 ACTN2 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1AA, Primary familial hypertrophic cardiomyopathy
RS199604909 INPPL1 Health Risk Conflicting classifications of pathogenicity —
RS199605239 RXYLT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS199605265 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS199605700 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Inborn genetic diseases
RS199605881 LDLRAP1 Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS199606102 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS199606147 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Ullrich congenital muscular dystrophy 1A
RS199606180 MYO7A Health Risk Pathogenic/Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 2
RS199606204 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS199606252 LRPPRC Health Risk Likely pathogenic Inborn genetic diseases, Congenital lactic acidosis
RS199606428 PPIB Health Risk Pathogenic Osteogenesis imperfecta, Osteogenesis imperfecta
RS199606532 LPL Health Risk Conflicting classifications of pathogenicity Hyperlipoproteinemia, type I
RS199607239 SLC4A1 Health Risk Conflicting classifications of pathogenicity 11 conditions, 11 conditions
RS199607966 SALL4 Health Risk Conflicting classifications of pathogenicity Duane-radial ray syndrome, Oculootoradial syndrome
RS199608017 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, DYSF-related disorder
RS199608117 PDZD7 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199608453 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS199608505 CSPP1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 21, CSPP1-related disorder
RS199608903 PHKA1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease IXd, Inborn genetic diseases
RS199609098 TBCD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199609621 PLXND1 Health Risk Conflicting classifications of pathogenicity PLXND1-related disorder, PLXND1-related disorder
RS199610460 MYOM1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS199610820 FA2H Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 35
RS199610834 ZNF469 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, Cardiovascular phenotype
RS199610919 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS199610988 CLCN1 Health Risk Conflicting classifications of pathogenicity Congenital myotonia, autosomal recessive form
RS199611644 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS199611735 BPTF Health Risk Likely pathogenic —
RS199612115 AIRE Health Risk Conflicting classifications of pathogenicity Polyglandular autoimmune syndrome, type 1
RS199612329 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex with nail dystrophy, Epidermolysis bullosa simplex
RS199612744 SPTA1 Health Risk Conflicting classifications of pathogenicity Hereditary spherocytosis type 3, Elliptocytosis 2
RS199612746 ATP11C Health Risk Conflicting classifications of pathogenicity ATP11C-related disorder, ATP11C-related disorder
RS199612856 POMGNT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a
RS199613080 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS199613161 CLCN7 Health Risk Likely pathogenic —
RS199613764 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Inborn genetic diseases
RS199613884 HMCN1 Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 1, Age related macular degeneration 1
RS199614101 CTBP1 Health Risk Conflicting classifications of pathogenicity —
RS199614709 IGHMBP2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2S, Autosomal recessive distal spinal muscular atrophy 1
RS199615251 GNB4 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate F, Charcot-Marie-Tooth disease dominant intermediate F
RS199615557 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS199615610 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Peters plus syndrome
RS199615641 ALMS1 Health Risk Conflicting classifications of pathogenicity Monogenic diabetes, Cardiovascular phenotype
RS199615717 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS199615803 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS199615848 TG Health Risk Conflicting classifications of pathogenicity Iodotyrosyl coupling defect, Iodotyrosyl coupling defect
RS199615869 HARS1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 3B, Usher syndrome type 3B
RS199615967 PADI3 Health Risk Likely pathogenic —
RS199615983 LMF1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS199616008 ABCC8 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Pulmonary arterial hypertension
RS199616332 PC Health Risk Conflicting classifications of pathogenicity Pyruvate carboxylase deficiency, Pyruvate carboxylase deficiency
RS199616533 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Arrhythmogenic right ventricular dysplasia 11
RS199617076 ELP1 Health Risk Conflicting classifications of pathogenicity Familial dysautonomia, Familial dysautonomia
RS199617528 ADAMTS2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, dermatosparaxis type
RS199617764 CEP83 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 18, Inborn genetic diseases
RS199617774 FAT2 Health Risk Conflicting classifications of pathogenicity —
RS199617785 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS199617821 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS199618059 SDHA Health Risk Conflicting classifications of pathogenicity Mitochondrial complex II deficiency, nuclear type 1
RS199618583 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hereditary hyperekplexia
RS199618784 ASH1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS199618999 USH2A Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2A, Usher syndrome type 2A
RS199619070 TTN Health Risk Conflicting classifications of pathogenicity 6 conditions, Dilated cardiomyopathy 1G
RS199619244 PLG Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS199619260 SYNE4 Health Risk Conflicting classifications of pathogenicity —
RS199619898 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS199619932 COQ8A Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia due to ubiquinone deficiency, Inborn genetic diseases
RS199620003 TTN Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS199620268 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Autism spectrum disorder
RS199620286 VDR Health Risk Conflicting classifications of pathogenicity Vitamin D-dependent rickets type II with alopecia, Inborn genetic diseases
RS199620361 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS199620476 NOTCH3 Health Risk Conflicting classifications of pathogenicity Cerebral arteriopathy, autosomal dominant
RS199621031 MYO15A Health Risk Likely pathogenic Rare genetic deafness, Autosomal recessive nonsyndromic hearing loss 3
RS199621188 ELN Health Risk Pathogenic/Likely pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS199621305 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, PKHD1-related disorder
RS199621773 MGAM Health Risk Conflicting classifications of pathogenicity —
RS199621917 TPO Health Risk Conflicting classifications of pathogenicity Deficiency of iodide peroxidase, Deficiency of iodide peroxidase
RS199621926 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
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