GCDH, glutaryl-CoA dehydrogenase, 2639

N. diseases: 72; N. variants: 121
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121434368
rs121434368 		0.925 0.120 19 12899471 missense variant C/T snv
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2004 2004
dbSNP: rs1277384196
rs1277384196 		0.925 0.120 19 12899507 missense variant T/C snv 4.0E-06
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
D-2-HYDROXYGLUTARIC ACIDURIA 1 		0.010 1.000 1 2004 2004