rs121434368, GCDH;SYCE2

N. diseases: 2
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.
Glutaric aciduria, type 1
CUI: C0268595
Disease: Glutaric aciduria, type 1
112 0.925 0.120 19 12899471 missense variant C/T snv 0.810 1.000 8 1995 2014
D-2-HYDROXYGLUTARIC ACIDURIA 1
CUI: C3152055
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 1
15 0.925 0.120 19 12899471 missense variant C/T snv 0.010 1.000 1 2004 2004