ACTN2, actinin alpha 2, 88

N. diseases: 35; N. variants: 9
Disease: Cardiomyopathy, Dilated ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs727502886
rs727502886 		0.925 0.040 1 236719007 missense variant G/A snv
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1407369744
rs1407369744 		1.000 0.080 1 236739384 missense variant T/G snv 8.0E-06 7.0E-06
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.010 1.000 1 2019 2019