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
RS148979783 SGCE Health Risk Conflicting classifications of pathogenicity Myoclonic dystonia 11, Myoclonic dystonia 11
RS148979787 ANKRD1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, ANKRD1-related dilated cardiomyopathy
RS1489798677 SKI Health Risk Conflicting classifications of pathogenicity Shprintzen-Goldberg syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS148980412 ZMYND15 Health Risk Conflicting classifications of pathogenicity ZMYND15-related disorder, ZMYND15-related disorder
RS148980576 CMYA5 Health Risk Conflicting classifications of pathogenicity —
RS1489806847 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS148981273 HLCS Health Risk Conflicting classifications of pathogenicity Holocarboxylase synthetase deficiency, Holocarboxylase synthetase deficiency
RS148981763 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS148982201 ALPL Health Risk Conflicting classifications of pathogenicity Childhood hypophosphatasia, Infantile hypophosphatasia
RS1489830382 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay with or without epilepsy
RS1489831148 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS1489832770 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS1489840314 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS148985177 SCNN1G Health Risk Conflicting classifications of pathogenicity Liddle syndrome 2, Pseudohypoaldosteronism
RS1489856215 DNAAF5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 18
RS1489860615 CREBBP Health Risk Likely pathogenic —
RS148986773 AIP Health Risk Conflicting classifications of pathogenicity Somatotroph adenoma, Hereditary cancer-predisposing syndrome
RS148986846 FRRS1L Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 37
RS148986857 DYNC2LI1 Health Risk Likely pathogenic —
RS148987163 PANK2 Health Risk Pathogenic Pigmentary pallidal degeneration, Inborn genetic diseases
RS148987427 PTPN23 Health Risk Conflicting classifications of pathogenicity PTPN23-related disorder, PTPN23-related disorder
RS148987580 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS1489883516 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS148989381 IFNAR1 Health Risk Conflicting classifications of pathogenicity IFNAR1-related disorder, IFNAR1-related disorder
RS148989517 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS148990028 JAG1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alagille syndrome due to a JAG1 point mutation
RS148990124 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS148990138 PRKN Health Risk Conflicting classifications of pathogenicity Autosomal recessive juvenile Parkinson disease 2, Autosomal recessive juvenile Parkinson disease 2
RS148990251 DNAAF1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 13
RS148990468 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1489915753 GRHPR Health Risk Pathogenic/Likely pathogenic Primary hyperoxaluria, type II
RS1489919946 ANK2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS148992866 VPS13D Health Risk Conflicting classifications of pathogenicity —
RS148993025 MYO3A Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 30, Inborn genetic diseases
RS148993589 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS148994527 CDAN1 Health Risk Conflicting classifications of pathogenicity Congenital dyserythropoietic anemia, type I
RS148994715 WBP11 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS148994877 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, Combined immunodeficiency due to DOCK8 deficiency
RS148995160 CTPS2 Health Risk Conflicting classifications of pathogenicity —
RS148995315 ACE Health Risk Conflicting classifications of pathogenicity Renal tubular dysgenesis, Renal tubular dysgenesis of genetic origin
RS148996116 ACSL4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, ACSL4-related disorder
RS148996231 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1489967497 RFX5 Health Risk Pathogenic MHC class II deficiency, MHC class II deficiency
RS1489972731 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS1489983826 HNRNPU Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 54
RS1489989834 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS148999376 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS1489993778 ACAN Health Risk Pathogenic/Likely pathogenic ACAN-related disorder, ACAN-related disorder
RS1489993984 TCIRG1 Health Risk Pathogenic Autosomal recessive osteopetrosis 1, Autosomal recessive osteopetrosis 1
RS148999583 CNGB1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Inborn genetic diseases
RS149000433 PSAP Health Risk Conflicting classifications of pathogenicity Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS149000772 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS1490008675 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1490010141 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS149001183 TMPRSS3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 8, TMPRSS3-related disorder
RS149001418 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 21, Autosomal dominant nonsyndromic hearing loss 12
RS149001703 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS149002761 TBCK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Hypotonia
RS149002807 NOD2 Health Risk Conflicting classifications of pathogenicity Blau syndrome, Inflammatory bowel disease 1
RS149003002 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS149003051 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS149003485 HSPD1 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 13
RS149003893 PLK4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149003934 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Amyotrophic lateral sclerosis type 5
RS149004188 LAMC3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, LAMC3-related disorder
RS149004293 JUP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 12, Naxos disease
RS149004528 KCNQ3 Health Risk Conflicting classifications of pathogenicity Benign neonatal seizures, Seizures
RS149004972 BCL9 Health Risk Conflicting classifications of pathogenicity —
RS149005052 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS1490051866 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS149005559 FRRS1L Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 37
RS149006687 MAK Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS149008055 FANCI Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group I
RS149008060 KCND3 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 19/22, Cardiovascular phenotype
RS149008090 PRF1 Health Risk Conflicting classifications of pathogenicity Familial hemophagocytic lymphohistiocytosis 2, Autoinflammatory syndrome
RS1490081896 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS149008479 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
RS149008539 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS149009126 IER3IP1 Health Risk Conflicting classifications of pathogenicity Microcephaly, epilepsy
RS149009269 OBSL1 Health Risk Conflicting classifications of pathogenicity 3M syndrome 2, 3M syndrome 2
RS149009678 IARS1 Health Risk Conflicting classifications of pathogenicity —
RS1490098860 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS149010496 COLEC10 Health Risk Pathogenic 3MC syndrome 3, See cases
RS149011081 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, Generalized dominant dystrophic epidermolysis bullosa
RS1490116413 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS1490117712 FAH Health Risk Conflicting classifications of pathogenicity Tyrosinemia type I, FAH-related disorder
RS1490119932 BEST1 Health Risk Pathogenic —
RS1490120963 ZNF462 Health Risk Pathogenic —
RS1490127694 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Cardiovascular phenotype
RS149012859 LIG4 Health Risk Conflicting classifications of pathogenicity DNA ligase IV deficiency, Multiple myeloma
RS149013740 WFS1 Health Risk Conflicting classifications of pathogenicity Type 2 diabetes mellitus, WFS1-related disorder
RS1490143139 EYS Health Risk Pathogenic —
RS149014496 ADAMTS10 Health Risk Conflicting classifications of pathogenicity Weill-Marchesani syndrome, Weill-Marchesani syndrome
RS149016022 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, SLC4A11-related disorder
RS149016373 SUFU Health Risk Conflicting classifications of pathogenicity Medulloblastoma, Gorlin syndrome
RS149017342 ADAMTSL4 Health Risk Conflicting classifications of pathogenicity Ectopia lentis 2, isolated
RS149017703 MCCC1 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 1 deficiency, Methylcrotonyl-CoA carboxylase deficiency
RS1490186766 CACNA1S Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS149018756 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1490196552 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
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