MYLK2, myosin light chain kinase 2, 85366

N. diseases: 35; N. variants: 6
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: rs121908108
rs121908108 		1.000 0.080 20 31820357 missense variant C/A snv 5.8E-04 2.0E-03
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 6 2001 2017
dbSNP: rs11908397
rs11908397 		20 31822508 intron variant G/A snv 1.3E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11908397
rs11908397 		20 31822508 intron variant G/A snv 1.3E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121908107
rs121908107 		1.000 0.080 20 31820333 missense variant C/T snv 1.6E-04 1.3E-04
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 1 2001 2001
dbSNP: rs4911532
rs4911532 		20 31820777 intron variant T/C snv 0.68
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs6060983
rs6060983 		20 31833121 intron variant T/C snv 0.42
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs193922712
rs193922712 		20 31821560 missense variant A/G snv 6.0E-05 5.6E-05
CUI: C0878544
Disease: Cardiomyopathies
Cardiomyopathies 		Cardiovascular Diseases 0.700 0