MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
Disease: Hypertrophic 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: rs139794067
rs139794067 		0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.710 < 0.001 1 2018 2018
dbSNP: rs104893750
rs104893750 		0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 7 2002 2017
dbSNP: rs199474703
rs199474703 		0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 4 2008 2017
dbSNP: rs199474706
rs199474706 		1.000 0.040 3 46859493 missense variant G/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2009 2017