GLA, galactosidase alpha, 2717

N. diseases: 190; N. variants: 203
Disease: Hypertrophic obstructive cardiomyopathy ×
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: rs104894833
rs104894833 		0.776 0.280 X 101403984 missense variant C/G snv 1.2E-04 1.9E-05
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs398123226
rs398123226 		0.882 0.160 X 101398403 missense variant G/C;T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2017 2017