rs1800312, 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 type II
CUI: C0017921
Disease: Glycogen storage disease type II
196 0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04 0.710 1.000 13 1994 2017
Glycogen Storage Disease
CUI: C0017919
Disease: Glycogen Storage Disease
8 0.925 0.120 17 80117016 stop gained G/A;C snv 8.0E-06; 3.1E-04 0.700 1.000 12 1994 2017