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
RS377136485 SMARCE1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial meningioma
RS377136573 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377137481 FRAS1 Health Risk Pathogenic/Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS377137483 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS377138079 DNMT3B Health Risk Conflicting classifications of pathogenicity Immunodeficiency-centromeric instability-facial anomalies syndrome 1, Centromeric instability of chromosomes 1
RS377138170 THPO Health Risk Conflicting classifications of pathogenicity Thrombocythemia 1, THPO-related disorder
RS377138881 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS377139218 ALDH3A2 Health Risk Likely pathogenic Sjögren-Larsson syndrome, Sjögren-Larsson syndrome
RS377139656 EFEMP2 Health Risk Conflicting classifications of pathogenicity Cutis laxa, autosomal recessive
RS377140103 COL7A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377141765 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377141822 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS377142129 SLC2A10 Health Risk Conflicting classifications of pathogenicity Arterial tortuosity syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS377142277 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 1
RS377143075 GBA1 Health Risk Conflicting classifications of pathogenicity —
RS377143286 NEDD4L Health Risk Conflicting classifications of pathogenicity Periventricular nodular heterotopia 7, Inborn genetic diseases
RS377143859 RAB39B Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-onset parkinsonism-intellectual disability syndrome
RS377144623 AVPR2 Health Risk Conflicting classifications of pathogenicity Diabetes insipidus, nephrogenic
RS377144746 MED13L Health Risk Conflicting classifications of pathogenicity Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS377144780 HNF4A Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Maturity-onset diabetes of the young
RS377144951 ATP7B Health Risk Pathogenic/Likely pathogenic Wilson disease, Wilson disease
RS377145254 LRP5 Health Risk Conflicting classifications of pathogenicity 6 conditions, 6 conditions
RS377145777 USH1C Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS377145979 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS377146580 STAT1 Health Risk Conflicting classifications of pathogenicity Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency, Autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome
RS377146699 DNMT1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory neuropathy-deafness-dementia syndrome, Inborn genetic diseases
RS377147994 IVD Health Risk Conflicting classifications of pathogenicity Isovaleryl-CoA dehydrogenase deficiency, Inborn genetic diseases
RS377149130 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS377149139 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS377150241 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS377150294 ITGA2 Health Risk Conflicting classifications of pathogenicity Platelet-type bleeding disorder 9, Inborn genetic diseases
RS377150532 FAT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377151927 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS377152953 GRIN2A Health Risk Conflicting classifications of pathogenicity Landau-Kleffner syndrome, Landau-Kleffner syndrome
RS377153250 BARD1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS377155851 GFPT1 Health Risk Pathogenic Congenital myasthenic syndrome 12, Congenital myasthenic syndrome 12
RS377155892 NPHP4 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Inborn genetic diseases
RS377156351 TECTA Health Risk Conflicting classifications of pathogenicity Autosomal dominant nonsyndromic hearing loss 12, Autosomal dominant nonsyndromic hearing loss 12
RS377156485 FAT4 Health Risk Conflicting classifications of pathogenicity FAT4-related disorder, Inborn genetic diseases
RS377156663 BICD2 Health Risk Conflicting classifications of pathogenicity Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS377156725 CEP290 Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Joubert syndrome
RS377156960 DMD Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS377157235 TNNT2 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 2, Dilated cardiomyopathy 1D
RS377159744 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS377160065 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 1, Cholestasis
RS377160543 CFHR5 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Inborn genetic diseases
RS377160857 WDR19 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Senior-Loken syndrome 8
RS377160954 TMEM67 Health Risk Conflicting classifications of pathogenicity Meckel-Gruber syndrome, Joubert syndrome
RS377161125 MLYCD Health Risk Conflicting classifications of pathogenicity Deficiency of malonyl-CoA decarboxylase, Deficiency of malonyl-CoA decarboxylase
RS377161481 PIGB Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377162158 ITGB3 Health Risk Pathogenic Glanzmann thrombasthenia, Glanzmann thrombasthenia 2
RS377162411 EXT1 Health Risk Pathogenic Multiple congenital exostosis, Multiple congenital exostosis
RS377163678 MYBPC3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy
RS377164490 PACS1 Health Risk Conflicting classifications of pathogenicity Schuurs-Hoeijmakers syndrome, Inborn genetic diseases
RS377164652 PCNT Health Risk Conflicting classifications of pathogenicity Microcephalic osteodysplastic primordial dwarfism type II, PCNT-related disorder
RS377164829 ADSL Health Risk Conflicting classifications of pathogenicity Adenylosuccinate lyase deficiency, Adenylosuccinate lyase deficiency
RS377165086 NOTCH1 Health Risk Conflicting classifications of pathogenicity Adams-Oliver syndrome 5, Aortic valve disease 1
RS377165829 CACNA1C Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS377166800 ALPK3 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS377167082 IL1RAPL1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 21
RS377167949 MOCS1 Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A, Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
RS377169217 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS377169342 CUL7 Health Risk Pathogenic 3M syndrome 1, 3M syndrome 1
RS377169467 HPS6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS377170187 ABCB11 Health Risk Conflicting classifications of pathogenicity Benign recurrent intrahepatic cholestasis type 2, Progressive familial intrahepatic cholestasis type 2
RS377171054 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS377171241 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS377172364 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Cutis laxa
RS377172759 CAD Health Risk Conflicting classifications of pathogenicity Infantile epileptic dyskinetic encephalopathy, Infantile epileptic dyskinetic encephalopathy
RS377173471 PROS1 Health Risk Likely pathogenic Thrombophilia due to protein S deficiency, autosomal dominant
RS377173958 ADGRV1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Usher syndrome type 2C
RS377174421 ABCC8 Health Risk Conflicting classifications of pathogenicity Hyperinsulinemic hypoglycemia, familial
RS377174668 AHDC1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
RS377174858 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS377174939 VPS13D Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377175810 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS377176361 SCN4A Health Risk Pathogenic/Likely pathogenic Hyperkalemic periodic paralysis, Hyperkalemic periodic paralysis
RS377177061 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS377177543 SIN3A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377177611 MYO15A Health Risk Conflicting classifications of pathogenicity —
RS377178447 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Inborn genetic diseases
RS377178986 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital myopathy, RYR1-related disorder
RS377179209 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS377180286 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiomyopathy
RS377180452 MAGEA10 Health Risk Conflicting classifications of pathogenicity —
RS377181573 GJB6 Health Risk Conflicting classifications of pathogenicity Hidrotic ectodermal dysplasia syndrome, Autosomal dominant nonsyndromic hearing loss 3B
RS377182072 DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Woodhouse-Sakati syndrome
RS377182240 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS377182398 CTNNA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS377182638 COL7A1 Health Risk Likely pathogenic Epidermolysis bullosa pruriginosa, Pretibial dystrophic epidermolysis bullosa
RS377182808 MYO15A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377182945 GHRHR Health Risk Conflicting classifications of pathogenicity Isolated growth hormone deficiency type IB, Inborn genetic diseases
RS377183096 NPHP4 Health Risk Conflicting classifications of pathogenicity NPHP4-related disorder, Nephronophthisis
RS377184301 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4F
RS377184401 CLDN1 Health Risk Conflicting classifications of pathogenicity —
RS377184852 SPAG1 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS377184977 SZT2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS377185303 TSC1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 1
RS377185608 TTN Health Risk Conflicting classifications of pathogenicity —
RS377186178 ATR Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome
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