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: rs121909448
rs121909448
GLYCTK
0.925 0.080 3 52293032 missense variant T/G snv 1.8E-04 9.8E-05
CUI: C0342765
Disease: D-Glyceric aciduria
D-Glyceric aciduria 		0.800 1.000 1 2010 2010