rs121908987, PRKAG2

N. diseases: 12
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.
Wolff-Parkinson-White Syndrome
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
22 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.810 1.000 4 2001 2009
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
9 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.800 1.000 11 2001 2018
Hypertrophic Cardiomyopathy
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
635 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 11 2001 2013
Glycogen Storage Disease of Heart, Lethal Congenital
4 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 6 2004 2015
Cardiomyopathies
CUI: C0878544
Disease: Cardiomyopathies
294 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 0
Cardiomyopathy, Hypertrophic, Familial
355 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.700 0
Ventricular preexcitation
CUI: C0559106
Disease: Ventricular preexcitation
2 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.020 1.000 2 2005 2008
Atrioventricular Block
CUI: C0004245
Disease: Atrioventricular Block
17 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
Familial (FPAH)
CUI: C1611743
Disease: Familial (FPAH)
276 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
Fasciculoventricular Accessory Pathway
1 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2011 2011
Glycogen Storage Disease Type IIb
CUI: C0878677
Disease: Glycogen Storage Disease Type IIb
40 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2009 2009
Preexcitation Syndrome
CUI: C0032915
Disease: Preexcitation Syndrome
2 0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2005 2005