rs387907203, COG4

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.
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
CUI: C3150736
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIj
6 1.000 16 70481062 missense variant A/C;G snv 4.0E-06 0.700 0
Congenital Disorders of Glycosylation
CUI: C0282577
Disease: Congenital Disorders of Glycosylation
38 1.000 16 70481062 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2011 2011