Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs764670084
rs764670084
GAA
0.925 0.120 17 80112621 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, infantile onset 		0.010 1.000 1 2014 2014
dbSNP: rs764670084
rs764670084
GAA
0.925 0.120 17 80112621 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.010 1.000 1 2014 2014