AKR1D1

aldo-keto reductase family 1 member D1

Summary

The enzyme encoded by this gene is responsible for the catalysis of the 5-beta-reduction of bile acid intermediates and steroid hormones carrying a delta(4)-3-one structure. Deficiency of this enzyme may contribute to hepatic dysfunction. Three transcript variants encoding different isoforms have been found for this gene. Other variants may be present, but their full-length natures have not been determined yet. [provided by RefSeq, Jul 2010]

Known Variants189 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs374681767	7:137,761,239	T/G	—	uncertain significance
rs794726925	7:137,761,274	A/G	—	uncertain significance
rs769312349	7:137,761,285	T/G	—	uncertain significance
rs138462322	7:137,761,288	C/T	—	uncertain significance
rs1562928432	7:137,761,312	C/T	—	uncertain significance
rs143960528	7:137,761,313	A/G	—	conflicting classifications of pathogenicity
rs756630815	7:137,761,324	C/T	—	conflicting classifications of pathogenicity
rs769791635	7:137,761,347	A/T	—	uncertain significance
rs148732404	7:137,761,356	C/T	—	uncertain significance
rs916587979	7:137,761,358	G/T	—	likely pathogenic
rs2120846	7:137,773,291	G/T	—	benign
rs200803153	7:137,773,339	C/G	—	uncertain significance
rs1562931657	7:137,773,353	A/G	—	uncertain significance
rs1412789407	7:137,773,380	G/A	—	uncertain significance
rs768056603	7:137,773,386	A/G	—	uncertain significance
rs749224036	7:137,773,401	C/T	—	pathogenic
rs201752860	7:137,773,402	G/A	—	uncertain significance
rs766798731	7:137,773,410	G/A	—	uncertain significance
rs758380535	7:137,773,425	T/C	—	uncertain significance
rs370290249	7:137,773,430	A/T	—	uncertain significance
rs374656577	7:137,773,439	C/T	—	likely benign
rs779758762	7:137,773,440	G/A	—	uncertain significance
rs1793989572	7:137,773,448	G/A	—	uncertain significance
rs879459528	7:137,773,455	A/G	—	uncertain significance
rs368152787	7:137,773,485	C/T	—	uncertain significance
rs199535210	7:137,773,486	G/A	—	uncertain significance
rs567335712	7:137,773,495	A/T	—	conflicting classifications of pathogenicity
rs201988060	7:137,773,515	G/T	splice region variant	pathogenic
rs2166188	7:137,773,563	T/G	—	benign
rs75189934	7:137,773,807	T/A	—	benign
rs17169512	7:137,776,240	G/A	—	benign
rs6943935	7:137,776,481	C/T	—	benign
rs144365681	7:137,776,507	C/A	—	likely benign
rs2117434759	7:137,776,513	G/T	—	likely pathogenic
rs1236669456	7:137,776,519	G/A	—	pathogenic
rs1794085311	7:137,776,549	C/T	—	uncertain significance
rs121918343	7:137,776,568	C/T	missense variant	pathogenic
rs2536079007	7:137,776,573	G/C	—	uncertain significance
rs1268021700	7:137,776,581	A/C	—	uncertain significance
rs187887082	7:137,776,584	T/C	—	conflicting classifications of pathogenicity
rs200261541	7:137,776,588	T/C	—	conflicting classifications of pathogenicity
rs1273264932	7:137,776,596	A/C	—	uncertain significance
rs146747335	7:137,776,597	T/A	—	uncertain significance
rs886062004	7:137,776,598	C/G	—	uncertain significance
rs201702426	7:137,776,608	T/C	—	uncertain significance
rs201142773	7:137,776,636	T/G	—	uncertain significance
rs10269530	7:137,782,430	A/G	—	benign
rs199951099	7:137,782,608	T/C	—	likely benign
rs140421486	7:137,782,613	C/T	—	uncertain significance
rs760200311	7:137,782,625	T/A	—	uncertain significance
rs149920599	7:137,782,629	C/T	—	conflicting classifications of pathogenicity
rs267606649	7:137,782,631	C/G	missense variant	pathogenic
rs867626075	7:137,782,639	G/A	—	uncertain significance
rs202238711	7:137,782,679	C/T	—	uncertain significance
rs1457496759	7:137,782,687	G/A	—	uncertain significance
rs13243992	7:137,784,790	C/T	intron variant	—
rs7795946	7:137,785,091	A/G	intron variant	—
rs6980334	7:137,788,492	G/C	—	—
rs2306845	7:137,789,937	G/T	—	benign
rs34703687	7:137,790,073	C/T	—	benign
rs1358790910	7:137,790,074	G/A	—	uncertain significance
rs1562937115	7:137,790,090	C/A	—	uncertain significance
rs1794400133	7:137,790,102	C/A	—	uncertain significance
rs753124330	7:137,790,105	A/G	—	conflicting classifications of pathogenicity
rs765269725	7:137,790,138	A/G	—	uncertain significance
rs770209934	7:137,790,139	C/G	—	uncertain significance
rs886044137	7:137,790,154	A/C	—	uncertain significance
rs200096959	7:137,790,181	G/A	—	likely benign
rs10244249	7:137,790,650	A/C	intron variant	—
rs114135471	7:137,791,343	C/T	—	likely benign
rs749744865	7:137,791,353	G/A	—	likely pathogenic
rs1433614577	7:137,791,357	G/T	—	pathogenic
rs121918342	7:137,791,367	C/T	missense variant	pathogenic
rs114392001	7:137,791,370	A/G	—	uncertain significance
rs1585738925	7:137,791,416	T/C	—	uncertain significance
rs1794440472	7:137,791,421	T/C	—	uncertain significance
rs201408607	7:137,791,429	T/C	—	uncertain significance
rs1562937700	7:137,791,449	T/A	—	uncertain significance
rs2536097414	7:137,791,459	A/G	—	uncertain significance
rs575025641	7:137,791,464	G/A	—	likely pathogenic
rs2306846	7:137,791,774	A/C	—	benign
rs1480006249	7:137,792,168	G/A	—	uncertain significance
rs200829661	7:137,792,194	T/C	—	conflicting classifications of pathogenicity
rs753825854	7:137,792,210	T/C	—	likely benign
rs757956464	7:137,792,225	A/G	—	uncertain significance
rs1032760561	7:137,792,230	G/A	—	likely benign
rs1794456938	7:137,792,242	A/G	—	likely benign
rs777588106	7:137,792,244	T/C	—	uncertain significance
rs267606650	7:137,792,252	C/T	missense variant	pathogenic
rs143101649	7:137,792,253	G/A	—	conflicting classifications of pathogenicity
rs770247815	7:137,792,267	C/T	—	pathogenic
rs182820353	7:137,792,268	G/A	—	pathogenic
rs765314823	7:137,792,307	G/A	—	uncertain significance
rs763628356	7:137,792,336	T/C	—	uncertain significance
rs3816829	7:137,792,420	A/G	—	benign
rs10954603	7:137,794,021	A/G	intron variant	—
rs10228704	7:137,795,206	T/C	intron variant	—
rs1038626	7:137,797,477	A/C	—	—
rs6467736	7:137,798,247	G/C	—	benign
rs17169518	7:137,798,426	G/A	—	benign

Showing 100 of 189 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.