ALDH1B1

aldehyde dehydrogenase 1 family member B1

Summary

This protein belongs to the aldehyde dehydrogenases family of proteins. Aldehyde dehydrogenase is the second enzyme of the major oxidative pathway of alcohol metabolism. This gene does not contain introns in the coding sequence. The variation of this locus may affect the development of alcohol-related problems. [provided by RefSeq, Jul 2008]

Known Variants63 total

rsidPosition (GRCh37)AllelesClassClinVar
rs92989769:38,392,604G/Tbenign
rs125541149:38,393,897C/T
rs7721078739:38,395,798G/Auncertain significance
rs7687391089:38,395,830A/Guncertain significance
rs7618452579:38,395,840C/Auncertain significance
rs7567778859:38,395,897A/Guncertain significance
rs1440624239:38,395,909C/Tuncertain significance
rs7611115549:38,395,912C/Tuncertain significance
rs24893312999:38,395,924C/Auncertain significance
rs20734779:38,395,928C/Tbenign
rs2011494739:38,395,929G/Tuncertain significance
rs7667695009:38,395,938A/Guncertain significance
rs22280949:38,395,940C/Tbenign
rs7569738959:38,395,963G/Auncertain significance
rs2017412569:38,395,965G/Tuncertain significance
rs22280939:38,396,002C/Gmissense variantbenign
rs1384734229:38,396,026G/Auncertain significance
rs1440350609:38,396,028C/Tuncertain significance
rs3762799209:38,396,029G/Alikely benign
rs7512293919:38,396,032T/Auncertain significance
rs5755844649:38,396,052C/Tuncertain significance
rs7708570769:38,396,064C/Tnot provided
rs20734789:38,396,065G/Tmissense variantbenign
rs5403804909:38,396,076C/Guncertain significance
rs7459138099:38,396,143A/Guncertain significance
rs24893317779:38,396,157G/Cuncertain significance
rs9131975619:38,396,178G/Auncertain significance
rs12811737909:38,396,179T/Cuncertain significance
rs7640051529:38,396,226A/Guncertain significance
rs24893319529:38,396,227T/Cuncertain significance
rs1494353499:38,396,259C/Guncertain significance
rs1130839919:38,396,271G/Abenign
rs15639148919:38,396,304T/Guncertain significance
rs1113255369:38,396,316A/Guncertain significance
rs7586920399:38,396,317T/Cuncertain significance
rs1454260059:38,396,372G/Abenign
rs715045699:38,396,388C/Tuncertain significance
rs2003225139:38,396,391C/Guncertain significance
rs7698348669:38,396,485C/Tuncertain significance
rs48781999:38,396,502G/Abenign
rs2014588959:38,396,509T/Cmissense variantpathogenic
rs1507769639:38,396,528C/Tbenign
rs7557196959:38,396,529G/Cuncertain significance
rs7758216819:38,396,566C/Tuncertain significance
rs7691204429:38,396,716G/Auncertain significance
rs7648090019:38,396,788T/Cuncertain significance
rs7725874159:38,396,870G/Cuncertain significance
rs1424273389:38,396,877C/Tstop gained
rs2011321639:38,396,889G/Auncertain significance
rs1378800219:38,396,913C/Tuncertain significance
rs5675436289:38,396,961G/Auncertain significance
rs14835841659:38,396,996C/Guncertain significance
rs7804677019:38,396,998T/Cuncertain significance
rs1385667289:38,397,044G/Cbenign
rs7520174379:38,397,082C/Tuncertain significance
rs412783359:38,397,083G/Abenign
rs3703762549:38,397,096C/Tuncertain significance
rs7705518959:38,397,097G/Alikely benign
rs617418259:38,397,154T/Cuncertain significance
rs8632239079:38,397,160C/Tuncertain significance
rs10162409819:38,397,193G/Auncertain significance
rs7666777509:38,397,236T/Auncertain significance
rs30439:38,397,355C/Gbenign

Gene information from NCBI Gene. Variant classifications from ClinVar.