MYH6, myosin heavy chain 6, 4624

N. diseases: 104; N. variants: 20
Disease: Aortic coarctation ×
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: rs387906656
rs387906656 		0.807 0.120 14 23396970 missense variant G/A snv 2.1E-05
CUI: C0003492
Disease: Aortic coarctation
Aortic coarctation 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2018 2018