rs886042961, GAA

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.
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 1.000 0.120 17 80108713 missense variant A/G;T snv 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 1.000 0.120 17 80108713 missense variant A/G;T snv 0.010 1.000 1 2014 2014