MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder) ×
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: rs104893749
rs104893749 		0.925 0.080 3 46859495 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 1996 2012