MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28
Disease: Cardiomyopathies ×
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: rs1566147422
rs1566147422 		12 110911146 frameshift variant AG/- del
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs751392310
rs751392310 		12 110919103 inframe deletion CCT/- delins 7.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs104894369
rs104894369 		0.807 0.080 12 110914287 missense variant C/A;T snv
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs35049558
rs35049558 		0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.010 1.000 1 2019 2019