rs121908989, PRKAG2

N. diseases: 4
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.
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
9 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.800 1.000 7 2001 2017
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.010 1 2002 2002
Hypertrophic obstructive cardiomyopathy
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
90 0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06 0.010 1 2002 2002