rs121908991, PRKAG2

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.
Deficiency of phosphorylase kinase
CUI: C1291390
Disease: Deficiency of phosphorylase kinase
1 0.807 0.120 7 151560610 missense variant C/A;T snv 0.010 1.000 1 2005 2005
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
4 0.807 0.120 7 151560610 missense variant C/A;T snv 0.800 1.000 5 2001 2016
Glycogen storage disease, type IX
CUI: C0268147
Disease: Glycogen storage disease, type IX
4 0.807 0.120 7 151560610 missense variant C/A;T snv 0.020 1.000 2 2005 2007
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.807 0.120 7 151560610 missense variant C/A;T snv 0.720 1.000 5 2003 2017
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.807 0.120 7 151560610 missense variant C/A;T snv 0.020 1.000 2 2005 2007
Wolff-Parkinson-White Syndrome
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
22 0.807 0.120 7 151560610 missense variant C/A;T snv 0.010 1.000 1 2005 2005