Source: CLINVAR

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 0 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 5 2001 2018
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: 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 0 2001 2017
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 4 2003 2017
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: 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: 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: rs1131692281
rs1131692281
PRKAG2
1.000 0.080 7 151675557 missense variant C/G;T snv 4.0E-06; 8.0E-06
CUI: C0043202
Disease: Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White Syndrome 		0.700 0
dbSNP: rs121908987
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs121908987
rs121908987
PRKAG2
0.742 0.200 7 151576412 missense variant C/A;G;T snv 4.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs121908990
rs121908990
PRKAG2
0.827 0.120 7 151560611 missense variant G/A;C snv
CUI: C4016809
Disease: WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET
WOLFF-PARKINSON-WHITE SYNDROME, CHILDHOOD-ONSET 		0.700 0
dbSNP: rs1563161306
rs1563161306
PRKAG2
1.000 0.040 7 151572693 missense variant A/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs193922697
rs193922697
PRKAG2
1.000 0.040 7 151576438 missense variant G/A;T snv 1.6E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0
dbSNP: rs193922697
rs193922697
PRKAG2
1.000 0.040 7 151576438 missense variant G/A;T snv 1.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		0.700 0
dbSNP: rs267606976
rs267606976
PRKAG2
1.000 0.080 7 151564203 missense variant A/G snv
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 0
dbSNP: rs267606977
rs267606977
PRKAG2
0.851 0.120 7 151560613 missense variant T/C snv
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 0
dbSNP: rs267606977
rs267606977
PRKAG2
0.851 0.120 7 151560613 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		0.700 0
dbSNP: rs267606978
rs267606978
PRKAG2
0.925 0.080 7 151564146 missense variant C/G snv
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 0
dbSNP: rs267606979
rs267606979
PRKAG2
0.882 0.080 7 151560560 missense variant A/G snv
CUI: C1833236
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder)
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 6 (disorder) 		0.700 0
dbSNP: rs397517283
rs397517283
PRKAG2
1.000 0.040 7 151574929 missense variant A/C;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.700 0