VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Disease: Cardiomyopathy, Familial Idiopathic ×
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: rs121917776
rs121917776 		0.882 0.040 10 74112086 missense variant C/T snv 9.9E-05 7.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs144683137
rs144683137 		0.925 0.120 10 74074745 missense variant A/G;T snv 1.2E-05; 3.6E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs938335177
rs938335177 		1.000 0.040 10 74043094 synonymous variant G/A snv
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2015 2015