MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
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: rs139794067
rs139794067 		0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs199474703
rs199474703 		0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C0344955
Disease: Ventricular septal hypertrophy
Ventricular septal hypertrophy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs749941468
rs749941468 		1.000 0.040 3 46863285 missense variant C/G;T snv 1.2E-05
CUI: C4021133
Disease: Left ventricular noncompaction cardiomyopathy
Left ventricular noncompaction cardiomyopathy 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2011 2011