MYL3, myosin light chain 3, 4634

N. diseases: 37; N. variants: 17
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: rs104893748
rs104893748 		0.925 0.080 3 46859511 missense variant T/C snv
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 8 1996 2017
dbSNP: rs104893749
rs104893749 		0.925 0.080 3 46859495 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 1996 2013
dbSNP: rs104893750
rs104893750 		0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.800 1.000 4 1996 2013
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: rs104893750
rs104893750 		0.882 0.080 3 46859529 missense variant C/T snv 1.2E-05 1.4E-05
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2002 2017
dbSNP: rs193922391
rs193922391 		1.000 0.080 3 46858413 missense variant T/C snv 5.6E-05 2.8E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1996 2013
dbSNP: rs199474702
rs199474702 		1.000 0.080 3 46860816 missense variant T/C snv
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 1996 2013
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: rs199474707
rs199474707 		1.000 0.080 3 46859490 missense variant C/A;G;T snv 1.2E-05; 4.0E-06; 1.6E-05
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 4 2006 2017
dbSNP: rs104893749
rs104893749 		0.925 0.080 3 46859495 missense variant C/A;T snv 4.0E-06; 2.4E-05
CUI: C3495498
Disease: Cardiomyopathy, Familial Hypertrophic, 1 (disorder)
Cardiomyopathy, Familial Hypertrophic, 1 (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 2 1996 2012
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
dbSNP: rs199474703
rs199474703 		0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 1.000 1 2016 2016
dbSNP: rs56387622
rs56387622 		1.000 0.080 3 46846708 intron variant T/C snv 0.17
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6768627
rs6768627 		3 46853886 intron variant C/T snv 0.13
CUI: C0001925
Disease: Albuminuria
Albuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs6772151
rs6772151 		3 46855009 intron variant C/A;G;T snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs6772151
rs6772151 		3 46855009 intron variant C/A;G;T snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs73065147
rs73065147 		3 46853449 intron variant T/C snv 8.6E-02
CUI: C0730345
Disease: Microalbuminuria
Microalbuminuria 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs76770574
rs76770574 		3 46866428 5 prime UTR variant A/T snv 8.8E-04
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs104893748
rs104893748 		0.925 0.080 3 46859511 missense variant T/C snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs139794067
rs139794067 		0.925 0.080 3 46860813 missense variant G/A;C;T snv 7.2E-05; 1.7E-04
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199474703
rs199474703 		0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C1837471
Disease: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs199474703
rs199474703 		0.851 0.120 3 46860702 missense variant C/T snv 8.0E-06
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0
dbSNP: rs730880162
rs730880162 		1.000 0.080 3 46859509 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: rs869025485
rs869025485 		1.000 0.080 3 46859573 missense variant C/T snv
CUI: C0949658
Disease: Cardiomyopathy, Hypertrophic, Familial
Cardiomyopathy, Hypertrophic, Familial 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0