Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908987
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		0.810 1.000 4 2001 2009
dbSNP: rs121908987
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.800 1.000 11 2001 2018
dbSNP: rs121908989
rs121908989
PRKAG2
0.882 0.080 7 151564199 missense variant T/A;C snv 4.0E-06
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.800 1.000 7 2001 2017
dbSNP: rs121908991
rs121908991
PRKAG2
0.807 0.120 7 151560610 missense variant C/A;T snv
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		0.800 1.000 5 2001 2016
dbSNP: rs10224210
rs10224210
PRKAG2
1.000 0.040 7 151716108 intron variant T/C snv 0.21
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.800 1.000 3 2009 2019
dbSNP: rs10224002
rs10224002
PRKAG2
0.925 0.080 7 151717955 intron variant A/G snv 0.31
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.800 1.000 1 2009 2009
dbSNP: rs10224002
rs10224002
PRKAG2
0.925 0.080 7 151717955 intron variant A/G snv 0.31
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.800 1.000 1 2009 2009
dbSNP: rs28938173
rs28938173
PRKAG2
0.925 0.080 7 151568750 missense variant G/T snv
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.800 0
dbSNP: rs121908991
rs121908991
PRKAG2
0.807 0.120 7 151560610 missense variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.720 1.000 5 2003 2017
dbSNP: rs7805747
rs7805747
PRKAG2
1.000 0.080 7 151710715 intron variant G/A snv 0.26
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		0.710 0.667 3 2010 2018
dbSNP: rs121908987
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 11 2001 2013
dbSNP: rs28938173
rs28938173
PRKAG2
0.925 0.080 7 151568750 missense variant G/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 8 2002 2016
dbSNP: rs121908987
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		0.700 1.000 6 2004 2015
dbSNP: rs10265221
rs10265221
PRKAG2
7 151717243 intron variant T/A;C snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 3 2016 2019
dbSNP: rs121908990
rs121908990
PRKAG2
0.827 0.120 7 151560611 missense variant G/A;C snv
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		0.700 1.000 3 2001 2004
dbSNP: rs267606977
rs267606977
PRKAG2
0.851 0.120 7 151560613 missense variant T/C snv
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		0.700 1.000 3 2008 2016
dbSNP: rs10224002
rs10224002
PRKAG2
0.925 0.080 7 151717955 intron variant A/G snv 0.31
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2018 2019
dbSNP: rs10224002
rs10224002
PRKAG2
0.925 0.080 7 151717955 intron variant A/G snv 0.31
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 2 2016 2017
dbSNP: rs10224210
rs10224210
PRKAG2
1.000 0.040 7 151716108 intron variant T/C snv 0.21
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 2 2016 2017
dbSNP: rs10254101
rs10254101
PRKAG2
7 151718450 intron variant C/T snv 0.23
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 2 2017 2019
dbSNP: rs10480300
rs10480300
PRKAG2
0.925 0.120 7 151708919 intron variant C/T snv 0.24
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2013 2019
dbSNP: rs121908988
rs121908988
PRKAG2
1.000 0.080 7 151568801 missense variant T/C snv
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 1.000 2 2001 2002
dbSNP: rs267606976
rs267606976
PRKAG2
1.000 0.080 7 151564203 missense variant A/G snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 1.000 2 2005 2014
dbSNP: rs267606978
rs267606978
PRKAG2
0.925 0.080 7 151564146 missense variant C/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 1.000 2 2006 2009
dbSNP: rs7805747
rs7805747
PRKAG2
1.000 0.080 7 151710715 intron variant G/A snv 0.26
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.700 1.000 2 2010 2016