rs780581250, PMM2

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 1A
CUI: C0349653
Disease: Congenital disorder of glycosylation type 1A
80 0.925 0.120 16 8813015 missense variant T/C snv 1.6E-05 0.700 0
Pericardial effusion
CUI: C0031039
Disease: Pericardial effusion
10 0.925 0.120 16 8813015 missense variant T/C snv 1.6E-05 0.010 1.000 1 2001 2001