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
RS748583869 CNGA3 Health Risk Pathogenic Achromatopsia 2, Achromatopsia 2
RS748584140 FBN2 Health Risk Conflicting classifications of pathogenicity Congenital contractural arachnodactyly, Congenital contractural arachnodactyly
RS748584848 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS748586810 METTL8;DCAF17 Health Risk Conflicting classifications of pathogenicity Woodhouse-Sakati syndrome, Nonpapillary renal cell carcinoma
RS748587720 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748587973 SPTBN2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 5, Autosomal recessive spinocerebellar ataxia 14
RS748588125 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS748589398 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS748589919 SMPD1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type A
RS748590408 RXYLT1 Health Risk Pathogenic/Likely pathogenic —
RS748590759 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, CHARGE syndrome
RS748591104 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS748592523 PDE6C Health Risk Likely pathogenic —
RS748592740 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Actin accumulation myopathy
RS748594806 ZNF469 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS748595405 SACS Health Risk Conflicting classifications of pathogenicity Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS748595772 HAX1 Health Risk Pathogenic/Likely pathogenic Kostmann syndrome, Kostmann syndrome
RS748597382 KCNB1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 26
RS748597500 DGUOK Health Risk Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Portal hypertension
RS748597598 NSD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Sotos syndrome
RS748598334 TTC21B Health Risk Likely pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS748598593 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS748599073 CEP120 Health Risk Conflicting classifications of pathogenicity Short-rib thoracic dysplasia 13 with or without polydactyly, Inborn genetic diseases
RS748600162 SPG7 Health Risk Conflicting classifications of pathogenicity —
RS748600370 DNAAF3 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748600834 GATM Health Risk Conflicting classifications of pathogenicity Arginine:glycine amidinotransferase deficiency, Fanconi renotubular syndrome 1
RS748601201 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS748601646 COL5A2 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS748601675 BBS9 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 9
RS748602445 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS748602773 ANK2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, ankyrin-B-related
RS748603087 AKT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cowden syndrome 6
RS748603743 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS748604051 RECQL4 Health Risk Conflicting classifications of pathogenicity Baller-Gerold syndrome, Baller-Gerold syndrome
RS748604898 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS748606221 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS748607156 PPP2R5D Health Risk Conflicting classifications of pathogenicity —
RS748609458 PTCH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gorlin syndrome
RS748610273 COL5A1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Ehlers-Danlos syndrome
RS748610718 TGM5 Health Risk Pathogenic Acral peeling skin syndrome, Acral peeling skin syndrome
RS748611349 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS748612396 DNAH1 Health Risk Likely pathogenic —
RS748613519 ATR Health Risk Conflicting classifications of pathogenicity Seckel syndrome 1, Seckel syndrome 1
RS748613561 CACNA1H Health Risk Conflicting classifications of pathogenicity Idiopathic generalized epilepsy, Hyperaldosteronism
RS748614674 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Hereditary cancer-predisposing syndrome
RS748615072 TBCD Health Risk Pathogenic/Likely pathogenic —
RS748616468 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS748616891 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cardiovascular phenotype
RS74861744 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Autoinflammatory syndrome
RS748617459 SPG11 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 11, Inborn genetic diseases
RS748617936 TTN Health Risk Conflicting classifications of pathogenicity —
RS74861804 COL7A1 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa dystrophica, COL7A1-related disorder
RS748618094 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Male infertility
RS74861823 ZNF407 Health Risk Conflicting classifications of pathogenicity —
RS748618811 WRN Health Risk Conflicting classifications of pathogenicity Werner syndrome, Werner syndrome
RS748619096 TTN Health Risk Pathogenic/Likely pathogenic —
RS748619848 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS748621056 ALMS1 Health Risk Pathogenic Alstrom syndrome, Alstrom syndrome
RS748621675 ADAMTSL4 Health Risk Pathogenic —
RS748622028 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS748622672 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Inborn genetic diseases
RS748623569 HADH Health Risk Conflicting classifications of pathogenicity Deficiency of 3-hydroxyacyl-CoA dehydrogenase, Hyperinsulinemic hypoglycemia
RS748624161 ALMS1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Alstrom syndrome
RS748624682 MEFV Health Risk Conflicting classifications of pathogenicity Familial Mediterranean fever, Autoinflammatory syndrome
RS748624754 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS748624980 CHRNE Health Risk Conflicting classifications of pathogenicity Congenital myasthenic syndrome, Congenital myasthenic syndrome 4A
RS748625715 LAMB1 Health Risk Pathogenic —
RS748628129 SLC1A2 Health Risk Conflicting classifications of pathogenicity —
RS748629190 CREB3L3 Health Risk Pathogenic —
RS748629721 MPDZ Health Risk Pathogenic —
RS748632114 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS748632850 SOS2 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 9, Cardiovascular phenotype
RS748634340 TDRD9 Health Risk Likely pathogenic Male infertility, Male infertility
RS748634683 DEPDC5 Health Risk Conflicting classifications of pathogenicity Familial focal epilepsy with variable foci, Inborn genetic diseases
RS748634900 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS748635133 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS748635750 CELSR1 Health Risk Conflicting classifications of pathogenicity —
RS748635985 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Familial cancer of breast
RS748636033 MINPP1 Health Risk Likely pathogenic Pontocerebellar hypoplasia, type 16
RS748636047 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
RS748636051 SOS1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome and Noonan-related syndrome, Cardiovascular phenotype
RS748636216 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS748637278 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS748637480 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS748639083 PREPL Health Risk Pathogenic Myasthenic syndrome, congenital
RS748639289 AP4M1 Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia 50, Hereditary spastic paraplegia 50
RS748639603 CLCN1 Health Risk Pathogenic/Likely pathogenic Congenital myotonia, autosomal dominant form
RS748639813 HRAS Health Risk Conflicting classifications of pathogenicity Costello syndrome, 6 conditions
RS748640706 ETFDH Health Risk Conflicting classifications of pathogenicity Multiple acyl-CoA dehydrogenase deficiency, Multiple acyl-CoA dehydrogenase deficiency
RS748641028 CSF1R Health Risk Conflicting classifications of pathogenicity Brain abnormalities, neurodegeneration
RS748641277 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS748641688 SERAC1 Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria with deafness, encephalopathy
RS748642981 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS748643212 PNKP Health Risk Conflicting classifications of pathogenicity Microcephaly, seizures
RS748643448 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Charcot-Marie-Tooth disease axonal type 2O
RS748643562 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Cardiovascular phenotype
RS748643694 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS748643730 OFD1 Health Risk Conflicting classifications of pathogenicity Rare genetic intellectual disability, Joubert syndrome
RS748644115 MITF Health Risk Conflicting classifications of pathogenicity Waardenburg syndrome type 2A, Tietz syndrome
RS748644391 ATP7B Health Risk Likely pathogenic Wilson disease, Wilson disease
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