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
RS1182846113 KIF15 Health Risk Likely risk allele Pulmonary fibrosis, Pulmonary fibrosis
RS1182853719 AMHR2 Health Risk Likely pathogenic Genetic non-acquired premature ovarian failure, Genetic non-acquired premature ovarian failure
RS1182864166 BBS1 Health Risk Likely pathogenic Bardet-Biedl syndrome 1, Bardet-Biedl syndrome 1
RS1182889391 TALDO1 Health Risk Pathogenic TALDO1-related disorder, Deficiency of transaldolase
RS1182894684 DLG4 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder 62, DLG4-related disorder
RS1182896077 NF2 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 2
RS1182900059 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS1182907194 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS1182909497 ASXL1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1182940646 RSPH9 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 12
RS1182948401 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS1182951086 MYO15A Health Risk Pathogenic —
RS1182982672 DOK7 Health Risk Pathogenic Congenital myasthenic syndrome 10, Fetal akinesia deformation sequence 1
RS1182983579 KLHL7 Health Risk Likely pathogenic Retinitis pigmentosa, Retinal dystrophy
RS1182984115 CAV3 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1183001223 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1183009408 TBC1D24 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 65, Developmental and epileptic encephalopathy
RS1183026416 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS1183062277 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS1183074086 ABCA4 Health Risk Pathogenic Retinal dystrophy, Stargardt disease
RS1183076483 MMUT Health Risk Pathogenic —
RS1183077355 TBCK Health Risk Pathogenic/Likely pathogenic Hypotonia, infantile
RS1183090232 RSRC1 Health Risk Pathogenic Intellectual developmental disorder, autosomal recessive 70
RS1183100703 ASNS Health Risk Pathogenic Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome, Congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
RS1183113572 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS1183121064 TRAF3IP1 Health Risk Pathogenic —
RS1183145967 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1183164202 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1183167782 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS1183175645 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS1183229867 BAP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, BAP1-related tumor predisposition syndrome
RS1183237509 DNAI2 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1183249870 WDR19 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1183256870 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS1183257496 CLN3 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 3, Neuronal ceroid lipofuscinosis 3
RS1183278712 HCN4 Health Risk Conflicting classifications of pathogenicity Sick sinus syndrome 2, autosomal dominant
RS1183281205 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS1183285612 GBE1 Health Risk Likely pathogenic Glycogen storage disease, type IV
RS1183300636 NPRL3 Health Risk Pathogenic Epilepsy, familial focal
RS1183324381 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS1183338050 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS1183339720 TRPM1 Health Risk Pathogenic —
RS1183351612 HADHA Health Risk Likely pathogenic Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency, Mitochondrial trifunctional protein deficiency
RS1183354903 IFT172 Health Risk Pathogenic Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS1183355532 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Familial thoracic aortic aneurysm and aortic dissection
RS1183365510 MKS1 Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS1183383313 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1183386473 SYN1 Health Risk Pathogenic/Likely pathogenic Epilepsy, X-linked 1
RS1183400865 PLP1 Health Risk Likely pathogenic Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher disease
RS1183403793 RNF170 Health Risk Conflicting classifications of pathogenicity Autosomal dominant sensory ataxia 1, Spastic paraplegia 85
RS1183407733 MYO7A Health Risk Pathogenic —
RS1183420702 COQ4 Health Risk Likely pathogenic Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
RS1183423966 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS1183456608 AGTPBP1 Health Risk Pathogenic Neurodegeneration, childhood-onset
RS1183489363 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1183501213 TRPM1 Health Risk Pathogenic —
RS1183505712 LARS2 Health Risk Likely pathogenic —
RS1183515598 PIGG Health Risk Pathogenic Intellectual disability, autosomal recessive 53
RS1183519794 LAMC2 Health Risk Likely pathogenic Epidermolysis bullosa, junctional 3A
RS1183527120 TBX4 Health Risk Likely pathogenic Pulmonary hypertension, primary
RS1183532981 AMH Health Risk Pathogenic Persistent Mullerian duct syndrome, Persistent Mullerian duct syndrome
RS1183556572 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1183559927 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1183568138 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1183577696 PTH Health Risk Pathogenic —
RS1183620642 PNKP Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS1183621605 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS1183634153 NAGLU Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS1183645965 CYP2U1 Health Risk Likely pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS1183655796 FOXC1 Health Risk Pathogenic Axenfeld-Rieger syndrome type 3, Anterior segment dysgenesis
RS11836796 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS11837584 VWF Health Risk Conflicting classifications of pathogenicity von Willebrand disease type 3, von Willebrand disease type 1
RS1183781456 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS1183794501 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS1183804155 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary breast ovarian cancer syndrome
RS1183811071 UGT1A1 Health Risk Conflicting classifications of pathogenicity —
RS1183812590 RAF1 Health Risk Conflicting classifications of pathogenicity RASopathy, Cardiovascular phenotype
RS1183818307 MLC1 Health Risk Pathogenic Megalencephalic leukoencephalopathy with subcortical cysts 1, Megalencephalic leukoencephalopathy with subcortical cysts 1
RS1183827513 F2 Health Risk Pathogenic Congenital prothrombin deficiency, Congenital prothrombin deficiency
RS1183832067 RFX5 Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS1183838086 COL7A1 Health Risk Likely pathogenic —
RS1183851640 ASPM Health Risk Conflicting classifications of pathogenicity —
RS1183854395 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1183869568 GLA Health Risk Pathogenic Fabry disease, Cardiovascular phenotype
RS1183890194 TYR Health Risk Pathogenic —
RS1183892581 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1183899324 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS1183901221 MESP2 Health Risk Likely pathogenic —
RS1183902447 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1183908844 DICER1 Health Risk Conflicting classifications of pathogenicity DICER1-related tumor predisposition, Hereditary cancer-predisposing syndrome
RS1183937142 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS11839380 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1183957540 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1183958961 COL4A3 Health Risk Likely pathogenic Benign familial hematuria, Autosomal dominant Alport syndrome
RS1183963868 ADAMTS13 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1183969284 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1183971719 XPC Health Risk Pathogenic —
RS1183978180 GDAP1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4A, Inborn genetic diseases
RS1183979115 CDHR1 Health Risk Pathogenic Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS1183981489 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
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