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
RS140251121 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS140251789 BAG3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1HH, Myofibrillar myopathy 6
RS140254310 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS140254470 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Inborn genetic diseases
RS140254478 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group P
RS140254589 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS140254802 IL12RB1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, IL12RB1-related disorder
RS140255077 NEK8 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 9, Nephronophthisis 9
RS140255091 CDH23 Health Risk Conflicting classifications of pathogenicity Usher syndrome type 1D, Autosomal recessive nonsyndromic hearing loss 12
RS140255233 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1402556079 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS140256288 KCNV2 Health Risk Conflicting classifications of pathogenicity Cone dystrophy with supernormal rod response, Retinal dystrophy
RS140256463 NBAS Health Risk Conflicting classifications of pathogenicity —
RS1402571360 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1402571742 CFAP418 Health Risk Pathogenic —
RS1402574017 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS140257538 RDH12 Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Macular dystrophy
RS140257722 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS1402584432 ARSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 6, Mucopolysaccharidosis type 6
RS140259310 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS140259346 NR0B1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Congenital adrenal hypoplasia
RS140260219 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa 39
RS1402604190 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS1402606705 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS140261054 SGCA Health Risk Conflicting classifications of pathogenicity Sarcoglycanopathy, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS140261309 PDGFRB Health Risk Conflicting classifications of pathogenicity Acroosteolysis-keloid-like lesions-premature aging syndrome, Infantile myofibromatosis
RS1402616233 LEMD3 Health Risk Pathogenic —
RS1402621591 CLDN1 Health Risk Likely pathogenic Neonatal ichthyosis-sclerosing cholangitis syndrome, Neonatal ichthyosis-sclerosing cholangitis syndrome
RS140262282 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS140262395 ECHS1 Health Risk Conflicting classifications of pathogenicity —
RS140262591 ATXN2 Health Risk Conflicting classifications of pathogenicity ATXN2-related disorder, ATXN2-related disorder
RS140262864 AQP2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS1402634815 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS140263617 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS140263823 ABCD1 Health Risk Conflicting classifications of pathogenicity Adrenoleukodystrophy, Inborn genetic diseases
RS1402642604 CACNA1A Health Risk Likely pathogenic —
RS1402646371 ACADVL Health Risk Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS140264933 BMPER Health Risk Conflicting classifications of pathogenicity Diaphanospondylodysostosis, Diaphanospondylodysostosis
RS140265039 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1402652492 MYO5B Health Risk Pathogenic —
RS1402657239 BSCL2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS1402669959 CSPP1 Health Risk Pathogenic/Likely pathogenic Joubert syndrome 21, Joubert syndrome 21
RS140267000 MYH11 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS1402670923 UNC13D Health Risk Pathogenic —
RS1402672053 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1402672430 ATL1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 3A, Hereditary spastic paraplegia 3A
RS140267699 PDE6A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinitis pigmentosa
RS140268343 CHRNA1 Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Lethal multiple pterygium syndrome
RS140268486 LTBP3 Health Risk Conflicting classifications of pathogenicity Brachyolmia-amelogenesis imperfecta syndrome, Geleophysic dysplasia 3
RS140269225 MTOR Health Risk Conflicting classifications of pathogenicity Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes, MTOR-related disorder
RS140269316 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type B
RS1402701697 LAMC3 Health Risk Likely pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS140270787 ATXN7 Health Risk Conflicting classifications of pathogenicity ATXN7-related disorder, ATXN7-related disorder
RS140271107 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS140271757 SAMD9L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140272085 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, DSD incomplete virilization
RS1402734026 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS140274454 COL9A1 Health Risk Conflicting classifications of pathogenicity —
RS1402747036 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS1402755105 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1402759053 COL1A1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Osteogenesis imperfecta type I
RS1402761530 DLD Health Risk Pathogenic/Likely pathogenic Pyruvate dehydrogenase E3 deficiency, Pyruvate dehydrogenase E3 deficiency
RS140276399 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Connective tissue disorder
RS1402767794 UPF3B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Syndromic X-linked intellectual disability 14
RS140277551 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS1402775763 LOXHD1 Health Risk Pathogenic —
RS140277700 MTHFR Health Risk Pathogenic/Likely pathogenic Homocystinuria due to methylene tetrahydrofolate reductase deficiency, Neural tube defects
RS140279158 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS1402802838 LTBP3 Health Risk Pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS1402804629 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS140281678 KIF5A Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 10, Spastic paraplegia
RS1402819968 SMAD2 Health Risk Pathogenic Congenital heart defects, multiple types
RS1402823262 GP1BB Health Risk Likely pathogenic Bernard Soulier syndrome, Bernard Soulier syndrome
RS1402841866 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS140284566 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Inborn genetic diseases
RS1402847477 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1402847914 MPL Health Risk Pathogenic Essential thrombocythemia, Congenital amegakaryocytic thrombocytopenia
RS1402853810 GRHPR Health Risk Likely pathogenic Primary hyperoxaluria, type II
RS140285782 FAT4 Health Risk Conflicting classifications of pathogenicity Van Maldergem syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS140286718 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Wolfram syndrome 1
RS140286824 CNGB3 Health Risk Conflicting classifications of pathogenicity Achromatopsia 3, Achromatopsia
RS140287192 SI Health Risk Conflicting classifications of pathogenicity Sucrase-isomaltase deficiency, Sucrase-isomaltase deficiency
RS1402872886 KDM5B Health Risk Pathogenic —
RS140287375 SPATA7 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 3, SPATA7-related disorder
RS140287760 TNNC1 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1Z, Hypertrophic cardiomyopathy 13
RS1402879259 FLNC Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Cardiovascular phenotype
RS140288103 SCN10A Health Risk Conflicting classifications of pathogenicity Brugada syndrome, Episodic pain syndrome
RS140288388 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS140288481 NOTCH1 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 1, Adams-Oliver syndrome 5
RS1402885350 KMT2B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1402891925 TECRL Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS1402893508 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1F, Retinal dystrophy
RS1402893994 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS1402894646 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS140289517 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS140290722 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS140291094 STAC3 Health Risk Pathogenic/Likely pathogenic Bailey-Bloch congenital myopathy, STAC3-related disorder
RS1402918571 MYO6 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS140291959 SPTA1 Health Risk Conflicting classifications of pathogenicity Elliptocytosis 2, Hereditary spherocytosis type 3
RS140292751 IARS1 Health Risk Pathogenic —
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