CAVIN4, caveolae associated protein 4, 347273

N. diseases: 10; N. variants: 3
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: rs143268013
rs143268013 		1.000 0.040 9 100578527 missense variant C/G snv 1.2E-04 3.4E-04
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs745743737
rs745743737 		9 100585774 missense variant C/G;T snv 8.0E-06; 3.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs751703046
rs751703046 		1.000 0.040 9 100586276 missense variant G/C snv 9.9E-05 4.9E-05
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		Cardiovascular Diseases 0.010 1.000 1 2011 2011