rs764670084, GAA

N. diseases: 3
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 0.925 0.120 17 80112621 missense variant C/T snv 4.0E-06 2.1E-05 0.700 1.000 20 1991 2010
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.925 0.120 17 80112621 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
Glycogen storage disease due to acid maltase deficiency, infantile onset
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
6 0.925 0.120 17 80112621 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014