MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28
Disease: Hypertrophic obstructive cardiomyopathy ×
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: rs104894369
rs104894369 		0.807 0.080 12 110914287 missense variant C/A;T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.030 1.000 3 2019 2019
dbSNP: rs35049558
rs35049558 		0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.030 1.000 3 2019 2019
dbSNP: rs397516406
rs397516406 		0.925 0.040 12 110911093 missense variant C/T snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018