MYL2, myosin light chain 2, 4633

N. diseases: 104; N. variants: 28
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 ×
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: 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: 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: rs143139258
rs143139258 		0.882 0.080 12 110913097 missense variant T/G snv 2.0E-04 2.9E-04
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs863225117
rs863225117 		1.000 0.080 12 110915759 missense variant C/T snv 7.0E-06
CUI: C1834460
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 10 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0