GAA, glucosidase alpha, acid, 2548

N. diseases: 77; N. variants: 210
Disease: Cardiomyopathies ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs764670084
rs764670084 		0.925 0.120 17 80112621 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs886042961
rs886042961 		1.000 0.120 17 80108713 missense variant A/G;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2014 2014