VCL, vinculin, 7414

N. diseases: 105; N. variants: 20
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 ×
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: rs71579353
rs71579353 		1.000 0.080 10 74082499 missense variant C/A;T snv 1.1E-04; 8.0E-06
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs863225121
rs863225121 		1.000 0.080 10 74094449 missense variant G/T snv
CUI: C2750459
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 15 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0