rs398123508, BCKDHA

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.
Maple Syrup Urine Disease
CUI: C0024776
Disease: Maple Syrup Urine Disease
134 1.000 0.120 19 41422370 missense variant G/C snv 3.2E-05 8.4E-05 0.700 1.000 4 1998 2015