rs747610090, GAA

N. diseases: 2
Source: CURATED ×
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.
Glycogen Storage Disease
CUI: C0017919
Disease: Glycogen Storage Disease
8 1.000 0.120 17 80108818 missense variant T/A snv 2.8E-05 0.700 1.000 10 2006 2017
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
196 1.000 0.120 17 80108818 missense variant T/A snv 2.8E-05 0.700 1.000 8 2006 2018