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
RS191153391 HSD17B3 Health Risk Pathogenic/Likely pathogenic Testosterone 17-beta-dehydrogenase deficiency, Testosterone 17-beta-dehydrogenase deficiency
RS191154178 CDH23 Health Risk Conflicting classifications of pathogenicity CDH23-related disorder, CDH23-related disorder
RS191155035 ZSWIM6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1911554964 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1911555382 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1911556061 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1911557433 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1911558912 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1911559787 NF1 Health Risk Likely pathogenic Neurofibromatosis, type 1
RS191155989 NPR2 Health Risk Conflicting classifications of pathogenicity Acromesomelic dysplasia 1, Maroteaux type
RS1911560774 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS1911622593 PRPF8 Health Risk Pathogenic —
RS1911638529 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS191164314 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiomyopathy
RS1911659345 PRPF8 Health Risk Pathogenic —
RS191166865 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS191171943 MYO15A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 3, Autosomal recessive nonsyndromic hearing loss 3
RS191174682 VPS13B Health Risk Conflicting classifications of pathogenicity Cohen syndrome, Inborn genetic diseases
RS1911894399 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS191190036 MPDZ Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191194366 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS191195745 PDE6B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191197223 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS1912009292 GALNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS1912011058 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS191201723 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS191202700 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS191202934 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
RS191203702 GLB1 Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-B
RS191205035 PLD1 Health Risk Likely pathogenic —
RS1912058703 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS191205969 TRPM1 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1C, Retinal dystrophy
RS191208192 CACNA2D2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, Inborn genetic diseases
RS191211377 SLC34A2 Health Risk Conflicting classifications of pathogenicity PULMONARY ALVEOLAR MICROLITHIASIS, Lung cancer
RS1912124497 GALNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-A
RS191213592 CACNA2D1 Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Cardiovascular phenotype
RS191215452 LAMA2 Health Risk Conflicting classifications of pathogenicity Congenital muscular dystrophy due to partial LAMA2 deficiency, LAMA2-related muscular dystrophy
RS1912228419 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS191224002 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS191228562 ADGRV1 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 2C, Usher syndrome type 2C
RS1912290012 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS191230389 SRP54 Health Risk Conflicting classifications of pathogenicity —
RS1912315295 RGS9 Health Risk Pathogenic —
RS191233787 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS1912376768 PIEZO1 Health Risk Likely pathogenic —
RS191237702 NDRG1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4D
RS191239995 CPLANE1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 17, Joubert syndrome 17
RS191244915 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, EPG5-related disorder
RS191245006 SNRNP200 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1912453387 PIEZO1 Health Risk Likely pathogenic —
RS1912459271 PRPF8 Health Risk Pathogenic —
RS191249840 KNL1 Health Risk Conflicting classifications of pathogenicity Microcephaly 4, primary
RS1912518161 PRPF8 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS1912519918 XYLT2 Health Risk Pathogenic —
RS1912543391 XYLT2 Health Risk Likely pathogenic Spondylo-ocular syndrome, Spondylo-ocular syndrome
RS1912544280 ATP8B1 Health Risk Pathogenic/Likely pathogenic Progressive familial intrahepatic cholestasis, Benign recurrent intrahepatic cholestasis type 1
RS1912582692 PRPF8 Health Risk Pathogenic —
RS1912610496 PRPF8 Health Risk Pathogenic —
RS1912631466 RGS9 Health Risk Likely pathogenic —
RS191263181 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1912636978 XYLT2 Health Risk Pathogenic —
RS191263754 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS191266255 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS1912687309 NXN Health Risk Pathogenic Robinow syndrome, autosomal recessive 2
RS1912700120 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1912702795 ACSF3 Health Risk Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS191270471 GARS1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS191284403 SLITRK1 Health Risk Pathogenic Tourette syndrome, Tourette syndrome
RS191286546 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS191287362 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS191288058 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS1912887899 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1912891330 AIPL1 Health Risk Likely pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1912903065 ATP8B1 Health Risk Pathogenic Familial intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS1912919808 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1912920081 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS191293319 ANGPTL3 Health Risk Likely pathogenic —
RS191293931 SLC6A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Epilepsy with myoclonic atonic seizures
RS191295403 PMM2 Health Risk Pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
RS191297318 FGG Health Risk Conflicting classifications of pathogenicity Congenital afibrinogenemia, Congenital afibrinogenemia
RS191300661 DSG2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS191304573 FN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS191308779 PLEC Health Risk Conflicting classifications of pathogenicity —
RS1913108251 ATP8B1 Health Risk Likely pathogenic Benign recurrent intrahepatic cholestasis type 1, Benign recurrent intrahepatic cholestasis type 1
RS191312027 ATP7B Health Risk Pathogenic Wilson disease, Inborn genetic diseases
RS191313794 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, CYP27A1-related disorder
RS191317359 MYT1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Intellectual disability
RS191320481 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1913249761 AIPL1 Health Risk Pathogenic Leber congenital amaurosis 4, Leber congenital amaurosis 4
RS1913263 MGST1 Health Risk association Pulmonary disease, chronic obstructive
RS1913293128 ATP8B1 Health Risk Pathogenic —
RS191334763 KCNE1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome 5
RS191337920 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS1913405478 ATP8B1 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Progressive familial intrahepatic cholestasis type 1
RS191342808 RBM20 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1DD, Cardiomyopathy
RS191344898 TRPM6 Health Risk Conflicting classifications of pathogenicity Intestinal hypomagnesemia 1, Inborn genetic diseases
RS191346286 NEFL Health Risk Pathogenic Charcot-Marie-Tooth disease type 2E, Charcot-Marie-Tooth disease
RS191352124 GRIN1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
RS191354103 OTOG Health Risk Conflicting classifications of pathogenicity —
RS191355534 KPNA7 Health Risk Conflicting classifications of pathogenicity KPNA7-related disorder, KPNA7-related disorder
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