Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121964999
rs121964999
DBT
0.882 0.120 1 100214929 missense variant A/C snv 1.1E-04 1.0E-04
CUI: C0024776
Disease: Maple Syrup Urine Disease
Maple Syrup Urine Disease 		0.800 1.000 3 1991 2014