rs386834236, GAA

N. diseases: 6
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 18 1988 2015
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 18 1988 2015
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 17 1989 2017
Glycogen Storage Disease
CUI: C0017919
Disease: Glycogen Storage Disease
16 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 1.000 11 1994 2015
GLYCOGEN STORAGE DISEASE II, ADULT FORM
CUI: C4016981
Disease: GLYCOGEN STORAGE DISEASE II, ADULT FORM
6 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 0
Myopathy
CUI: C0026848
Disease: Myopathy
166 0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 0.700 0