ACTN2, actinin alpha 2, 88

N. diseases: 35; N. variants: 9
Disease: Hypertrophic Cardiomyopathy ×
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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 1 2010 2010
dbSNP: rs200631005
rs200631005 		0.925 0.040 1 236751561 missense variant A/C;G snv 2.4E-05; 1.1E-03
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs755492182
rs755492182 		0.882 0.080 1 236735677 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs786204951
rs786204951 		0.925 0.040 1 236753990 missense variant A/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2010 2010