rs142752477, GAA

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.
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 1.000 0.120 17 80108537 missense variant G/A;T snv 3.2E-05; 8.0E-06 0.800 1.000 23 1991 2014