MYL9, myosin light chain 9, 10398

N. diseases: 52; N. variants: 1
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: rs750083965
rs750083965
0.882 0.160 20 36548073 missense variant G/A snv 4.0E-06
Cardiomyopathy, Hypertrophic, Familial
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.010 1.000 1 2005 2005
dbSNP: rs750083965
rs750083965
0.882 0.160 20 36548073 missense variant G/A snv 4.0E-06
CUI: C0745103
Disease: Hyperlipoproteinemia Type IIa
Hyperlipoproteinemia Type IIa
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs750083965
rs750083965
0.882 0.160 20 36548073 missense variant G/A snv 4.0E-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 2005 2005