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
RS75470261 ALB Health Risk Pathogenic Analbuminemia, Analbuminemia
RS754702823 ALMS1 Health Risk Pathogenic Alstrom syndrome, Retinal dystrophy
RS754703121 COL11A2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, COL11A2-related disorder
RS754704005 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome type 1
RS754705612 TRPM1 Health Risk Pathogenic/Likely pathogenic Congenital stationary night blindness 1C, Congenital stationary night blindness 1C
RS754706111 SPRED1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Legius syndrome
RS754706338 COL4A4 Health Risk Pathogenic Disease of glomerular basement membrane, Focal segmental glomerulosclerosis
RS754706559 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS754706599 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS754706834 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
RS754706851 SETX Health Risk Pathogenic/Likely pathogenic Spinocerebellar ataxia, autosomal recessive
RS754708052 FLNB Health Risk Conflicting classifications of pathogenicity —
RS754709708 BBS4 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 4
RS754711653 IFT74 Health Risk Pathogenic —
RS754712378 WDR35 Health Risk Likely pathogenic —
RS754712755 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS754713192 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Inborn genetic diseases
RS754714105 ABCA3 Health Risk Pathogenic/Likely pathogenic Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies, Interstitial lung disease due to ABCA3 deficiency
RS754714789 ATP1A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754714905 CACNA2D4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754714910 MYH9 Health Risk Conflicting classifications of pathogenicity MYH9-related disorder, Autosomal dominant nonsyndromic hearing loss 17
RS754716741 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS754718956 WDR62 Health Risk Conflicting classifications of pathogenicity Microcephaly 2, primary
RS754719045 RTEL1 Health Risk Conflicting classifications of pathogenicity Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS754719295 MAP3K15;PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS754720218 DPF2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754722529 ARSA Health Risk Pathogenic Metachromatic leukodystrophy, Metachromatic leukodystrophy
RS754723643 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS754724304 NFASC Health Risk Pathogenic Neurodevelopmental disorder with central and peripheral motor dysfunction, Neurodevelopmental disorder with central and peripheral motor dysfunction
RS754725361 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754726157 SPTB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754726425 NOTCH3 Health Risk Conflicting classifications of pathogenicity —
RS754726772 CDHR1 Health Risk Conflicting classifications of pathogenicity Cone-rod dystrophy 15, Cone-rod dystrophy 15
RS754727069 TBC1D24 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Autosomal dominant nonsyndromic hearing loss 65
RS754727774 FLG Health Risk Conflicting classifications of pathogenicity Ichthyosis vulgaris, Ichthyosis vulgaris
RS754727782 KMT2C Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754728136 CEP290 Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS754728195 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS754728827 HNF1A Health Risk Pathogenic Maturity-onset diabetes of the young type 3, Maturity-onset diabetes of the young
RS754730500 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS754730567 MCPH1 Health Risk Conflicting classifications of pathogenicity Microcephaly 1, primary
RS754730601 CYP7B1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 5A, Spastic paraplegia
RS754731091 GALNS Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-IV-A
RS754731686 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754732068 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS754732747 CACNA1D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS754732860 GALC Health Risk Likely pathogenic Galactosylceramide beta-galactosidase deficiency, Galactosylceramide beta-galactosidase deficiency
RS754733091 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS754734571 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS754734713 PNP Health Risk Pathogenic Purine-nucleoside phosphorylase deficiency, Severe combined immunodeficiency disease
RS754735053 RECQL4 Health Risk Conflicting classifications of pathogenicity Rothmund-Thomson syndrome, Hereditary cancer-predisposing syndrome
RS754735171 ST3GAL3 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS754738111 GRIN2B Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 6
RS754740382 MMUT Health Risk Pathogenic —
RS754740619 ITGA2B Health Risk Likely pathogenic Glanzmann thrombasthenia 1, Glanzmann thrombasthenia
RS754740693 BAP1 Health Risk Conflicting classifications of pathogenicity BAP1-related tumor predisposition syndrome, Hereditary cancer-predisposing syndrome
RS754741111 MCCC2 Health Risk Conflicting classifications of pathogenicity 3-methylcrotonyl-CoA carboxylase 2 deficiency, 3-methylcrotonyl-CoA carboxylase 2 deficiency
RS754741320 GCDH Health Risk Pathogenic Glutaric aciduria, type 1
RS754742854 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS754743440 GBA1 Health Risk Likely pathogenic Gaucher disease, Gaucher disease
RS754743917 FOXC1 Health Risk Conflicting classifications of pathogenicity Axenfeld-Rieger syndrome type 3, Axenfeld-Rieger syndrome type 3
RS754744244 MYL2 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 10, Myopathy
RS754744644 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754744780 TCAP Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 25
RS754745863 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS754747623 TMEM43 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS754747851 CEACAM16 Health Risk Pathogenic —
RS754750176 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS754750531 MRPS2 Health Risk Likely pathogenic Combined oxidative phosphorylation deficiency 36, Combined oxidative phosphorylation deficiency 36
RS754750539 TBCD Health Risk Pathogenic Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
RS754750752 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, FLNC-related disorder
RS754752068 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS754752982 DARS2 Health Risk Conflicting classifications of pathogenicity Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS754753126 SLC52A3 Health Risk Pathogenic Progressive bulbar palsy of childhood, Brown-Vialetto-van Laere syndrome 1
RS754753583 IFT140 Health Risk Conflicting classifications of pathogenicity Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS754753605 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS754755038 PCCA Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS754755294 POMT2 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS754755989 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS754756178 GLMN Health Risk Pathogenic/Likely pathogenic Glomuvenous malformation, Inborn genetic diseases
RS754756970 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS754757253 LTBP4 Health Risk Pathogenic —
RS754758285 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia, Citrullinemia
RS754761406 KCNH5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS754761503 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS754762370 ITGB2 Health Risk Conflicting classifications of pathogenicity Leukocyte adhesion deficiency 1, Leukocyte adhesion deficiency 1
RS754763072 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS754763074 DYSF Health Risk Conflicting classifications of pathogenicity Miyoshi muscular dystrophy 1, Distal myopathy with anterior tibial onset
RS754764007 PHIP Health Risk Conflicting classifications of pathogenicity Rare genetic intellectual disability, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS754764412 MRPS22 Health Risk Pathogenic —
RS754765164 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS754765193 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS754765424 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS754766543 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS754767041 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS754767262 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS754768875 USH2A Health Risk Pathogenic Usher syndrome type 2A, Leber congenital amaurosis
RS754769010 COL4A4 Health Risk Conflicting classifications of pathogenicity Alport syndrome, Alport syndrome
RS754769076 MBD4 Health Risk Pathogenic Inborn genetic diseases, Tumor predisposition syndrome 2
RS754769393 NUBPL Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 1
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