MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28
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: rs104894369
rs104894369 		0.807 0.080 12 110914287 missense variant C/A;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.740 1.000 17 1998 2019
dbSNP: rs104894368
rs104894368 		0.882 0.080 12 110919133 stop gained C/A;G;T snv 4.0E-06; 8.0E-06; 2.0E-05
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.710 1.000 11 1996 2016
dbSNP: rs397516406
rs397516406 		0.925 0.040 12 110911093 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.710 1.000 4 2008 2018
dbSNP: rs199474814
rs199474814 		1.000 0.040 12 110911094 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 1.000 2 2008 2013
dbSNP: rs397516398
rs397516398 		1.000 0.040 12 110914267 missense variant C/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516399
rs397516399 		1.000 0.040 12 110914200 missense variant C/G;T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516407
rs397516407 		0.925 0.080 12 110911090 missense variant T/C;G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs397516408
rs397516408 		0.925 0.080 12 110919117 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs587782965
rs587782965 		0.882 0.080 12 110914221 missense variant G/T snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503296
rs727503296 		1.000 0.040 12 110911096 missense variant T/C snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.700 0
dbSNP: rs35049558
rs35049558 		0.851 0.040 12 110914287 frameshift variant -/CT ins 8.0E-06
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.040 1.000 4 2019 2019