rs398123190, SYCE2;GCDH

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.
Glutaric aciduria, type 1
CUI: C0268595
Disease: Glutaric aciduria, type 1
112 1.000 0.120 19 12897777 missense variant G/A;C snv 8.0E-06; 1.2E-05 0.700 1.000 4 2000 2019