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
RS57695159 KRT1 Health Risk Pathogenic Epidermolytic ichthyosis, Epidermolytic ichthyosis
RS576959220 RP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS576969206 IFT81 Health Risk Likely pathogenic Short-rib thoracic dysplasia 19 with or without polydactyly, Short-rib thoracic dysplasia 19 with or without polydactyly
RS576969969 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS576976549 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS576990255 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, Malignant hyperthermia
RS576991429 TRPS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Trichorhinophalangeal syndrome
RS576992025 ASXL3 Health Risk Conflicting classifications of pathogenicity Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome, Inborn genetic diseases
RS576999040 SCN10A Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Brugada syndrome
RS577000059 AOPEP Health Risk Pathogenic Dystonia 31, Dystonia 31
RS577006107 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS577006493 CACNA1A Health Risk Pathogenic Developmental and epileptic encephalopathy, 42
RS577008275 CPA1 Health Risk Conflicting classifications of pathogenicity Hereditary pancreatitis, Hereditary pancreatitis
RS577008971 COL27A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577015120 NKX2-1 Health Risk Conflicting classifications of pathogenicity Brain-lung-thyroid syndrome, NKX2-1-related disorder
RS577018955 SCN3A Health Risk Conflicting classifications of pathogenicity —
RS577021605 ERCC6 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 1, DE SANCTIS-CACCHIONE SYNDROME
RS577022490 CYP11B1 Health Risk Likely pathogenic Deficiency of steroid 11-beta-monooxygenase, Deficiency of steroid 11-beta-monooxygenase
RS577022740 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS577030895 TBCK Health Risk Pathogenic Intellectual disability, Intellectual disability
RS577034676 HPS5 Health Risk Pathogenic Hermansky-Pudlak syndrome 5, Hermansky-Pudlak syndrome 5
RS577042191 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS577045722 HPGD Health Risk Pathogenic Hypertrophic osteoarthropathy, primary
RS577050962 IBA57 Health Risk Conflicting classifications of pathogenicity Multiple mitochondrial dysfunctions syndrome 3, Hereditary spastic paraplegia 74
RS577054276 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS577055148 OPA1 Health Risk Conflicting classifications of pathogenicity —
RS577055211 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS577059613 P3H1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 8, Osteogenesis Imperfecta
RS577061462 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic cardiomyopathy with wooly hair and keratoderma, Arrhythmogenic right ventricular dysplasia 8
RS577063114 FANCL Health Risk Pathogenic Fanconi anemia complementation group L, Fanconi anemia
RS577065337 PIEZO2 Health Risk Conflicting classifications of pathogenicity Arthrogryposis, distal
RS577065342 PNPLA6 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 39, Hereditary spastic paraplegia 39
RS577066020 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS577069249 CCDC39 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 14
RS577070620 NPHP1 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS577076166 PLCB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 12
RS577088293 MYH3 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 2B1, Freeman-Sheldon syndrome
RS577104686 SLC39A4 Health Risk Conflicting classifications of pathogenicity Hereditary acrodermatitis enteropathica, Hereditary acrodermatitis enteropathica
RS577104822 MYO7A Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 11, Autosomal dominant nonsyndromic hearing loss 11
RS577109679 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS577110118 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS577112286 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS577114038 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS577123327 SPTA1 Health Risk Conflicting classifications of pathogenicity —
RS577131769 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS577136660 B3GLCT Health Risk Conflicting classifications of pathogenicity Peters plus syndrome, Inborn genetic diseases
RS577140751 PDE6B Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Congenital stationary night blindness autosomal dominant 2
RS577148408 TAB2 Health Risk Likely pathogenic Congenital heart defects, multiple types
RS577155361 UNC45B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577163578 SPINK2 Health Risk Pathogenic Spermatogenic failure 29, Spermatogenic failure 29
RS577173144 CEP57 Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 2, Mosaic variegated aneuploidy syndrome 2
RS577189349 ANGPTL3 Health Risk Pathogenic —
RS577197549 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS577209023 SLC16A1 Health Risk Pathogenic —
RS577209883 TWNK Health Risk Conflicting classifications of pathogenicity Autosomal recessive cerebellar ataxia, Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS577211739 CDT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577217331 IL17RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency 51, IL17RA-related disorder
RS577217817 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS577233378 MACF1 Health Risk Conflicting classifications of pathogenicity See cases, Inborn genetic diseases
RS577233623 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS577240830 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS577253174 FANCF Health Risk Conflicting classifications of pathogenicity Fanconi anemia, FANCF-related disorder
RS577253222 CRYAB Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1II, Dilated cardiomyopathy 1II
RS577261001 GNAT2 Health Risk Conflicting classifications of pathogenicity Achromatopsia 4, Achromatopsia 4
RS577262396 NSD1 Health Risk Conflicting classifications of pathogenicity Sotos syndrome, NSD1-related disorder
RS577264401 FKBP10 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type 11, Osteogenesis imperfecta type 11
RS577271106 SKIC2 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 2, Trichohepatoenteric syndrome 2
RS57728054 TJP2 Health Risk Conflicting classifications of pathogenicity TJP2-related disorder, TJP2-related disorder
RS577288886 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS577290119 MRPL12 Health Risk Pathogenic Combined oxidative phosphorylation deficiency 45, Combined oxidative phosphorylation deficiency 45
RS577298130 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS577301285 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS577301887 ABCA3 Health Risk Conflicting classifications of pathogenicity Interstitial lung disease due to ABCA3 deficiency, Interstitial lung disease due to ABCA3 deficiency
RS577302209 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS577303432 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS577305220 ITK Health Risk Conflicting classifications of pathogenicity Lymphoproliferative syndrome 1, Lymphoproliferative syndrome 1
RS57730570 LMNA Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS577306911 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS577313004 ACAT1 Health Risk Conflicting classifications of pathogenicity Deficiency of acetyl-CoA acetyltransferase, Inborn genetic diseases
RS577314143 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS577323013 AUTS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AUTS2-related disorder
RS577325764 GJC2 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hypomyelinating leukodystrophy 2
RS577329624 SLC2A1 Health Risk Conflicting classifications of pathogenicity GLUT1 deficiency syndrome 1, autosomal recessive
RS577331691 SLC25A20 Health Risk Pathogenic/Likely pathogenic Carnitine acylcarnitine translocase deficiency, Carnitine acylcarnitine translocase deficiency
RS577332041 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS577334837 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS577339340 LTBP4 Health Risk Conflicting classifications of pathogenicity Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
RS577350705 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS577353173 ABCC2 Health Risk Pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS577354460 SOX17 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577357377 PIEZO1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS577360771 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS577362409 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS577363824 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS577371071 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS577372550 PLXNA2 Health Risk Conflicting classifications of pathogenicity PLXNA2-related disorder, PLXNA2-related disorder
RS577375480 FAT1 Health Risk Pathogenic —
RS57737580 WDR72 Health Risk Conflicting classifications of pathogenicity WDR72-related disorder, WDR72-related disorder
RS577389548 ADGRV1 Health Risk Conflicting classifications of pathogenicity —
RS577393948 CLDN14 Health Risk Conflicting classifications of pathogenicity —
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