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: 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: 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