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
RS538655454 MUSK Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 9, Fetal akinesia deformation sequence 1
RS538674235 MYO5B Health Risk Conflicting classifications of pathogenicity Congenital microvillous atrophy, Congenital microvillous atrophy
RS538679983 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, Stickler syndrome type 2
RS538690867 TNRC18 Health Risk Conflicting classifications of pathogenicity —
RS538699452 TANC1 Health Risk Conflicting classifications of pathogenicity —
RS538699999 ABCG8 Health Risk Conflicting classifications of pathogenicity Sitosterolemia 1, Sitosterolemia 1
RS538707712 SCN5A Health Risk Conflicting classifications of pathogenicity Ventricular fibrillation, paroxysmal familial
RS538708444 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS538720577 SZT2 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 18
RS538721412 COL4A1 Health Risk Conflicting classifications of pathogenicity Brain small vessel disease 1 with or without ocular anomalies, Brain small vessel disease 1 with or without ocular anomalies
RS538724792 AHI1 Health Risk Conflicting classifications of pathogenicity Joubert syndrome 3, Joubert syndrome
RS538728271 BLM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Bloom syndrome
RS538728807 RGS9 Health Risk Conflicting classifications of pathogenicity RGS9-related disorder, RGS9-related disorder
RS538731397 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS538735006 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS538743256 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS538749758 LAMA5 Health Risk Conflicting classifications of pathogenicity LAMA5-related disorder, Inborn genetic diseases
RS538758039 CACNA1H Health Risk Conflicting classifications of pathogenicity Epilepsy, childhood absence
RS538761360 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS538761445 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Inborn genetic diseases
RS538766032 EPHB4 Health Risk Conflicting classifications of pathogenicity Capillary malformation-arteriovenous malformation 2, Cardiovascular phenotype
RS538769374 PKD1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS538778224 SLC4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant distal renal tubular acidosis, Hemolytic anemia
RS538779271 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Myofibrillar myopathy 5
RS538781815 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
RS538791135 FARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 14, Hereditary spastic paraplegia 77
RS538791217 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS538791873 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS5388 GH1 Health Risk Conflicting classifications of pathogenicity Decreased response to growth hormone stimulation test, Decreased response to growth hormone stimulation test
RS538810746 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS538820015 RHO Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS538827412 CHRNB1 Health Risk Conflicting classifications of pathogenicity See cases, Congenital myasthenic syndrome 2A
RS538829833 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS538837278 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, Fibrochondrogenesis 1
RS538856716 LEMD3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538863259 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Distal myopathy with posterior leg and anterior hand involvement
RS538864090 NR2E3 Health Risk Conflicting classifications of pathogenicity Enhanced S-cone syndrome, Retinitis pigmentosa
RS538869102 COL11A2 Health Risk Conflicting classifications of pathogenicity —
RS538871720 SETD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Luscan-Lumish syndrome
RS538875477 POLE Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS538875655 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS538875706 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia
RS538879121 PDE4D Health Risk Conflicting classifications of pathogenicity Acrodysostosis 2 with or without hormone resistance, Acrodysostosis 2 with or without hormone resistance
RS538884532 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS538890890 CAPN5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538891750 NCKAP1 Health Risk Pathogenic —
RS538894487 SKIC3 Health Risk Conflicting classifications of pathogenicity Trichohepatoenteric syndrome 1, Trichohepatoenteric syndrome
RS538912281 FOXE1 Health Risk Conflicting classifications of pathogenicity Thyroid cancer, nonmedullary
RS538917969 EIF2B3 Health Risk Conflicting classifications of pathogenicity Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1
RS538920224 GZF1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS538932463 DCTN1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Perry syndrome
RS538937116 CYBC1 Health Risk Conflicting classifications of pathogenicity —
RS538937637 FLNB Health Risk Conflicting classifications of pathogenicity FLNB-Related Spectrum Disorders, FLNB-Related Spectrum Disorders
RS538944334 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS538946388 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS538956139 UNC80 Health Risk Pathogenic Hypotonia, infantile
RS538959125 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS538959856 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS538960023 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, TTN-related disorder
RS538964929 DNAJB13 Health Risk Conflicting classifications of pathogenicity DNAJB13-related disorder, DNAJB13-related disorder
RS538969920 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS538970775 HMCN1 Health Risk Conflicting classifications of pathogenicity —
RS538981059 NPHS2 Health Risk Conflicting classifications of pathogenicity Nephrotic syndrome, type 2
RS538981621 GRIA2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS538984401 CUBN Health Risk Conflicting classifications of pathogenicity Imerslund-Grasbeck syndrome, Proteinuria
RS538986139 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Autosomal dominant cerebellar ataxia
RS538988623 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS538989808 ANK1 Health Risk Pathogenic Hereditary spherocytosis type 1, Hereditary spherocytosis type 1
RS538996447 MESP2 Health Risk Pathogenic/Likely pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS539005229 PIEZO1 Health Risk Conflicting classifications of pathogenicity PIEZO1-related disorder, PIEZO1-related disorder
RS539005958 PHEX Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539007966 MYO18B Health Risk Pathogenic Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome, Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
RS539010490 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS539010725 PIBF1 Health Risk Pathogenic Joubert syndrome 33, Joubert syndrome 33
RS539013622 KCNJ13 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 16, Leber congenital amaurosis 16
RS539019626 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS539025487 LEFTY2 Health Risk Conflicting classifications of pathogenicity Left-right axis malformations, Left-right axis malformations
RS539027647 AIP Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pituitary adenoma 5
RS539029862 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS539033545 SETX Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS539045917 RELN Health Risk Conflicting classifications of pathogenicity Norman-Roberts syndrome, Familial temporal lobe epilepsy 7
RS539057828 MLIP Health Risk Pathogenic Myopathy with myalgia, increased serum creatine kinase
RS539068584 CYP2U1 Health Risk Likely pathogenic Hereditary spastic paraplegia 56, Hereditary spastic paraplegia 56
RS539069124 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS539069621 SLC12A3 Health Risk Conflicting classifications of pathogenicity Familial hypokalemia-hypomagnesemia, Familial hypokalemia-hypomagnesemia
RS539071271 GPR179 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1E, Congenital stationary night blindness 1E
RS539074063 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS539080792 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS539081624 DIS3L2 Health Risk Conflicting classifications of pathogenicity Perlman syndrome, DIS3L2-related disorder
RS539108137 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS539108537 APC Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS539109194 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS539117121 SHOC2 Health Risk Conflicting classifications of pathogenicity RASopathy, Noonan syndrome and Noonan-related syndrome
RS539119124 TRIP12 Health Risk Conflicting classifications of pathogenicity Clark-Baraitser syndrome, Inborn genetic diseases
RS539124305 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS539139475 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS539141247 C2CD3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS539144173 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS539149720 IARS2 Health Risk Likely pathogenic —
RS539165395 ENG Health Risk Conflicting classifications of pathogenicity Hereditary hemorrhagic telangiectasia, Cardiovascular phenotype
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