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
RS757170859 DOCK6 Health Risk Likely pathogenic DOCK6-related disorder, DOCK6-related disorder
RS757171524 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS757172838 F13A1 Health Risk Likely pathogenic Factor XIII, A subunit
RS757172850 ABCC8 Health Risk Conflicting classifications of pathogenicity Transitory neonatal diabetes mellitus, Maturity-onset diabetes of the young
RS757173009 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS757173108 DNMT3A Health Risk Conflicting classifications of pathogenicity DNMT3A-related disorder, Tatton-Brown-Rahman overgrowth syndrome
RS757173567 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Developmental disorder
RS757174356 TUB Health Risk Conflicting classifications of pathogenicity TUB-related disorder, TUB-related disorder
RS757175092 SLC34A2 Health Risk Pathogenic —
RS757175768 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS757175860 HOXD13 Health Risk Conflicting classifications of pathogenicity —
RS757175933 COL1A1 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Osteogenesis imperfecta type I
RS757177003 ALMS1 Health Risk Likely pathogenic Alstrom syndrome, Alstrom syndrome
RS757177279 SLC25A13 Health Risk Conflicting classifications of pathogenicity Citrullinemia type II, Citrin deficiency
RS757177349 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS757177445 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome
RS757178659 UROD Health Risk Conflicting classifications of pathogenicity Familial porphyria cutanea tarda, Familial porphyria cutanea tarda
RS757178741 TNXB Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS757179309 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS757179911 MEN1 Health Risk Likely pathogenic Multiple endocrine neoplasia, type 1
RS757183814 ZMIZ1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757184166 BRCA1 Health Risk Likely pathogenic —
RS757184514 MTRR Health Risk Conflicting classifications of pathogenicity Disorders of Intracellular Cobalamin Metabolism, Methylcobalamin deficiency type cblE
RS757185314 APOB Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, autosomal dominant
RS757187481 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS757188030 SLFN14 Health Risk Pathogenic Platelet-type bleeding disorder 20, Platelet-type bleeding disorder 20
RS757188953 OTOG Health Risk Pathogenic Monogenic hearing loss, Monogenic hearing loss
RS75718910 RNASEH2A Health Risk Likely pathogenic Aicardi-Goutieres syndrome 4, Aicardi Goutieres syndrome
RS757189400 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS757190258 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS757191246 ABCC8 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, Transitory neonatal diabetes mellitus
RS757191914 HELLS Health Risk Pathogenic —
RS757192342 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS757192357 TUBB3 Health Risk Conflicting classifications of pathogenicity —
RS757192472 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS757193884 ADGRV1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757194485 MSH3 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS757194881 PCSK9 Health Risk Conflicting classifications of pathogenicity Hypobetalipoproteinemia, Familial hypercholesterolemia
RS757195322 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS757195926 LARS1 Health Risk Likely pathogenic —
RS757197161 METTL23 Health Risk Likely pathogenic —
RS757197196 RAI1 Health Risk Conflicting classifications of pathogenicity RAI1-related disorder, RAI1-related disorder
RS757197845 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS757198328 ADAMTSL4 Health Risk Pathogenic/Likely pathogenic —
RS757198475 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS757198557 CLCN7 Health Risk Pathogenic/Likely pathogenic Autosomal dominant osteopetrosis 2, Hypopigmentation
RS757198941 ALMS1 Health Risk Conflicting classifications of pathogenicity Alstrom syndrome, Cardiovascular phenotype
RS757200738 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS757200771 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS757201043 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS75720127 SGSH Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-A
RS757202895 XPR1 Health Risk Conflicting classifications of pathogenicity Basal ganglia calcification, idiopathic
RS757203330 DOCK8 Health Risk Conflicting classifications of pathogenicity —
RS757203783 TBK1 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS757204134 ZFYVE26 Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Hereditary spastic paraplegia 15
RS757204749 TMEM67 Health Risk Likely pathogenic COACH syndrome 1, COACH syndrome 1
RS757204777 LARS2 Health Risk Likely pathogenic Inborn mitochondrial myopathy, Inborn mitochondrial myopathy
RS757205195 ATAD3A Health Risk Likely pathogenic —
RS757205958 CPS1 Health Risk Pathogenic —
RS757206151 CPLANE1 Health Risk Likely pathogenic —
RS757206516 CFAP418 Health Risk Pathogenic —
RS757207387 DNAH11 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 7, Primary ciliary dyskinesia
RS757208121 CC2D2A Health Risk Pathogenic/Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS757208743 DSP Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, 6 conditions
RS757209071 POLR3A Health Risk Conflicting classifications of pathogenicity Neonatal pseudo-hydrocephalic progeroid syndrome, Leukodystrophy
RS757210438 CEP290 Health Risk Likely pathogenic Bardet-Biedl syndrome 14, Bardet-Biedl syndrome 14
RS757210594 KCNT1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 14
RS757211048 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS757211186 SLC24A1 Health Risk Pathogenic —
RS757211277 DNMT3A Health Risk Likely pathogenic Tatton-Brown-Rahman overgrowth syndrome, Tatton-Brown-Rahman overgrowth syndrome
RS757211531 FANCL Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group L, Fanconi anemia
RS757212818 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia 3, Primary ciliary dyskinesia
RS757212984 SQSTM1 Health Risk Conflicting classifications of pathogenicity Paget disease of bone 2, early-onset
RS757213764 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS757215211 COL11A2 Health Risk Likely pathogenic COL11A2-related disorder, COL11A2-related disorder
RS757215216 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS757215612 RAPSN Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome 11, Fetal akinesia deformation sequence 1
RS757216362 REST Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757216434 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, autosomal dominant
RS757216544 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Familial thoracic aortic aneurysm and aortic dissection
RS757218098 ADGRV1 Health Risk Conflicting classifications of pathogenicity Febrile seizures, familial
RS757218186 SLC17A5 Health Risk Conflicting classifications of pathogenicity Salla disease, Inborn genetic diseases
RS757218786 HIVEP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757219498 FLNC Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Hypertrophic cardiomyopathy 26
RS75722024 LRIT3 Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness 1F, Inborn genetic diseases
RS757220593 C2CD3 Health Risk Conflicting classifications of pathogenicity C2CD3-related disorder, C2CD3-related disorder
RS757221445 TSC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Tuberous sclerosis 2
RS757221938 BLM Health Risk Likely pathogenic Bloom syndrome, Bloom syndrome
RS757222354 LYST Health Risk Pathogenic Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS757222534 INPP5E Health Risk Conflicting classifications of pathogenicity Joubert syndrome, Joubert syndrome
RS757222815 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS757222949 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS757224600 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, KANSL1-related disorder
RS757224692 ALOX12B Health Risk Pathogenic —
RS757225144 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS757225917 LHCGR Health Risk Pathogenic Gonadotropin-independent familial sexual precocity, Leydig cell agenesis
RS757227515 CACNA1G Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS757228029 ITGB4 Health Risk Pathogenic —
RS757229467 TTN Health Risk Conflicting classifications of pathogenicity —
RS757230162 INF2 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
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