MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28
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: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 19 1996 2017
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: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 16 1996 2017
dbSNP: rs104894370
rs104894370 		1.000 0.080 12 110919145 missense variant A/G snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 10 1996 2017
dbSNP: rs121913658
rs121913658 		1.000 0.080 12 110913316 missense variant G/A;C snv 4.0E-06
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 10 1996 2017
dbSNP: rs104894363
rs104894363 		1.000 0.080 12 110919160 missense variant C/T snv 3.7E-04 2.0E-04
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 6 1996 2003
dbSNP: rs3782889
rs3782889 		0.851 0.160 12 110912851 intron variant A/G snv 7.1E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.800 1.000 1 2013 2013
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: rs199474815
rs199474815 		0.925 0.080 12 110911081 missense variant T/A snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 6 1996 2003
dbSNP: rs199474813
rs199474813 		1.000 0.080 12 110911176 splice acceptor variant C/A;G;T snv 4.0E-06; 4.8E-05; 4.0E-06
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2001 2016
dbSNP: rs587782965
rs587782965 		0.882 0.080 12 110914221 missense variant G/T snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 3 2011 2017
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: rs3782889
rs3782889 		0.851 0.160 12 110912851 intron variant A/G snv 7.1E-02
CUI: C0013124
Disease: Drinking behavior processes
Drinking behavior processes 		Behavior and Behavior Mechanisms 0.700 1.000 2 2011 2013
dbSNP: rs397516407
rs397516407 		0.925 0.080 12 110911090 missense variant T/C;G snv
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 2011 2014
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: C4022012
Disease: Death in early adulthood
Death in early adulthood 		0.700 1.000 1 2016 2016
dbSNP: rs10849917
rs10849917 		1.000 0.040 12 110919270 intron variant T/A snv 0.13
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11065774
rs11065774 		1.000 0.040 12 110917522 intron variant G/A snv 4.7E-02
CUI: C0013124
Disease: Drinking behavior processes
Drinking behavior processes 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs17550549
rs17550549 		12 110919667 intron variant C/T snv 5.6E-02
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs2040571
rs2040571 		12 110919923 intron variant G/A snv 8.4E-02
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2018 2018
dbSNP: rs2040571
rs2040571 		12 110919923 intron variant G/A snv 8.4E-02
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs3782889
rs3782889 		0.851 0.160 12 110912851 intron variant A/G snv 7.1E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs3825389
rs3825389 		1.000 0.040 12 110912967 intron variant C/T snv 7.1E-02
CUI: C0013124
Disease: Drinking behavior processes
Drinking behavior processes 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs104894369
rs104894369 		0.807 0.080 12 110914287 missense variant C/A;T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs143139258
rs143139258 		0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C0007193
Disease: Cardiomyopathy, Dilated
Cardiomyopathy, Dilated 		Cardiovascular Diseases 0.700 0