rs796051877, GAA

N. diseases: 11
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.
Absent reflex
CUI: C0234146
Disease: Absent reflex
16 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Cardiomegaly
CUI: C0018800
Disease: Cardiomegaly
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Dyspnea
CUI: C0013404
Disease: Dyspnea
26 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Foramen Ovale, Patent
CUI: C0016522
Disease: Foramen Ovale, Patent
14 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Glycogen storage disease type II
CUI: C0017921
Disease: Glycogen storage disease type II
269 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Hepatomegaly
CUI: C0019209
Disease: Hepatomegaly
30 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Pediatric failure to thrive
CUI: C2315100
Disease: Pediatric failure to thrive
122 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Pneumonia
CUI: C0032285
Disease: Pneumonia
33 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.700 1.000 1 2015 2015
Glycogen storage disease due to acid maltase deficiency, infantile onset
CUI: C3888924
Disease: Glycogen storage disease due to acid maltase deficiency, infantile onset
6 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015