rs267606649, AKR1D1

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Bile acid synthesis defect, congenital, 2
CUI: C1856127
Disease: Bile acid synthesis defect, congenital, 2
5 1.000 0.120 7 138097885 missense variant C/G snv 1.6E-05 3.6E-05 0.800 1.000 4 2003 2010