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
RS76262710 RET Health Risk Pathogenic Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS762627146 ARSL Health Risk Conflicting classifications of pathogenicity Chondrodysplasia punctata, brachytelephalangic
RS762627425 OPA1 Health Risk Conflicting classifications of pathogenicity OPA1-related disorder, OPA1-related disorder
RS762627851 LAMA2 Health Risk Conflicting classifications of pathogenicity LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS762628133 SOD1 Health Risk Conflicting classifications of pathogenicity Amyotrophic lateral sclerosis type 1, Amyotrophic lateral sclerosis type 1
RS762628361 TBXAS1 Health Risk Conflicting classifications of pathogenicity Ghosal hematodiaphyseal dysplasia, Inborn genetic diseases
RS762629200 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS762630777 TYMP Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 1, TYMP-related disorder
RS762630866 RARS2 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS762631020 RD3 Health Risk Pathogenic Leber congenital amaurosis 12, Leber congenital amaurosis
RS762631031 PKP2 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 9, Cardiomyopathy
RS762631237 NPHS2 Health Risk Pathogenic/Likely pathogenic Nephrotic syndrome, type 2
RS762632312 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Inborn genetic diseases
RS762632420 SLC2A2 Health Risk Conflicting classifications of pathogenicity Fanconi-Bickel syndrome, Fanconi-Bickel syndrome
RS762633090 CEP290 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Nephronophthisis
RS762633609 SPRED1 Health Risk Conflicting classifications of pathogenicity Legius syndrome, Cardiovascular phenotype
RS762634272 TRPM1 Health Risk Likely pathogenic —
RS762634619 EPG5 Health Risk Conflicting classifications of pathogenicity Vici syndrome, Inborn genetic diseases
RS762635358 C3 Health Risk Conflicting classifications of pathogenicity Complement component 3 deficiency, Age related macular degeneration 9
RS762635374 CACNA1H Health Risk Conflicting classifications of pathogenicity Hyperaldosteronism, familial
RS762635795 BRCA1 Health Risk Pathogenic Breast-ovarian cancer, familial
RS762636894 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS762638415 MICAL1 Health Risk Conflicting classifications of pathogenicity —
RS762638591 CREBBP Health Risk Conflicting classifications of pathogenicity Rubinstein-Taybi syndrome, CREBBP-related disorder
RS762638651 ADAMTS18 Health Risk Pathogenic —
RS762638752 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Congenital stationary night blindness 1F
RS762639913 EPG5 Health Risk Pathogenic Vici syndrome, Vici syndrome
RS762640071 NEB Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 2, Inborn genetic diseases
RS762641110 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS762641480 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS762642157 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS762643273 ALG6 Health Risk Pathogenic/Likely pathogenic ALG6-congenital disorder of glycosylation 1C, ALG6-congenital disorder of glycosylation 1C
RS762643472 FOXN1 Health Risk Pathogenic T-cell immunodeficiency, congenital alopecia
RS762643638 TGFB3 Health Risk Conflicting classifications of pathogenicity Rienhoff syndrome, Arrhythmogenic right ventricular dysplasia 1
RS762644377 PLOD2 Health Risk Conflicting classifications of pathogenicity PLOD2-related disorder, PLOD2-related disorder
RS762645007 IFT172 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 71, Short-rib thoracic dysplasia 10 with or without polydactyly
RS762645157 SPTAN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS762645558 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762645702 LRP2 Health Risk Pathogenic —
RS762646235 COL4A4 Health Risk Conflicting classifications of pathogenicity —
RS762646464 F5 Health Risk Pathogenic/Likely pathogenic Factor V deficiency, Congenital factor V deficiency
RS762646794 NPC1 Health Risk Pathogenic Niemann-Pick disease, type C1
RS762647113 TERT Health Risk Conflicting classifications of pathogenicity Idiopathic Pulmonary Fibrosis, Dyskeratosis congenita
RS762647468 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS762647750 HPS4 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 4, Hermansky-Pudlak syndrome 4
RS762648490 NOBOX Health Risk Conflicting classifications of pathogenicity Premature ovarian failure 5, Inborn genetic diseases
RS762648754 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS762648843 RAD50 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS762648897 TFR2 Health Risk Likely pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS762649633 PRKAG2 Health Risk Conflicting classifications of pathogenicity Lethal congenital glycogen storage disease of heart, Cardiomyopathy
RS762650392 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS762650572 ASXL3 Health Risk Pathogenic See cases, See cases
RS762651640 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS762651784 LCT Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762651875 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762652171 TNXB Health Risk Pathogenic/Likely pathogenic Vesicoureteral reflux 8, Ehlers-Danlos syndrome due to tenascin-X deficiency
RS762652676 SGCB Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy
RS762652935 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS762653086 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS762653147 DIS3L2 Health Risk Pathogenic/Likely pathogenic Perlman syndrome, Perlman syndrome
RS762653370 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS762653476 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS762653511 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS762653652 COL1A1 Health Risk Likely pathogenic Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS762653813 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta, Osteogenesis imperfecta type I
RS762654322 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS762654687 LTBP3 Health Risk Likely pathogenic Brachyolmia-amelogenesis imperfecta syndrome, Brachyolmia-amelogenesis imperfecta syndrome
RS762656795 EHHADH Health Risk Conflicting classifications of pathogenicity Fanconi renotubular syndrome 3, EHHADH-related disorder
RS762657816 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS762659685 GRIN2A Health Risk Pathogenic/Likely pathogenic Landau-Kleffner syndrome, Inborn genetic diseases
RS762659794 MED12 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, FG syndrome
RS762660111 SYNE1 Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS762660468 OTOF Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS762662276 ABHD5 Health Risk Pathogenic/Likely pathogenic Triglyceride storage disease with ichthyosis, Triglyceride storage disease with ichthyosis
RS762662376 APOB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial hypobetalipoproteinemia 1
RS762662455 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS762662896 KIF7 Health Risk Pathogenic/Likely pathogenic Acrocallosal syndrome, KIF7-related disorder
RS762664261 CCDC40 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS762664474 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS762665302 SLC24A1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1D, Congenital stationary night blindness 1D
RS762665640 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS762665959 OTOF Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762666243 DYNC2H1 Health Risk Pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS762667000 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS762667276 TTN Health Risk Conflicting classifications of pathogenicity —
RS762667660 CYP4F22 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 5, Autosomal recessive congenital ichthyosis 5
RS762668060 CNGA3 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS762668200 MKS1 Health Risk Pathogenic/Likely pathogenic Meckel syndrome, type 1
RS762668220 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS762669262 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS762669462 HNF1A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS762669789 ECM1 Health Risk Pathogenic/Likely pathogenic Lipid proteinosis, Lipid proteinosis
RS76267039 CEP290 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Nephronophthisis
RS76267164 FCN2 Health Risk association —
RS762673561 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS762675426 COG5 Health Risk Pathogenic/Likely pathogenic COG5-congenital disorder of glycosylation, COG5-congenital disorder of glycosylation
RS762677297 TAP1 Health Risk Conflicting classifications of pathogenicity MHC class I deficiency, Inborn genetic diseases
RS762677340 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS762677981 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS762678772 PGM3 Health Risk Pathogenic Immunodeficiency 23, Immunodeficiency 23
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