MYLK, myosin light chain kinase, 4638

N. diseases: 199; 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: rs387906781
rs387906781 		0.925 3 123620300 missense variant A/G snv
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.800 1.000 1 2010 2010
dbSNP: rs368390254
rs368390254 		1.000 3 123682239 missense variant C/A;G;T snv 4.4E-06; 4.4E-05; 1.0E-04
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 1.000 4 2010 2015
dbSNP: rs1343700
rs1343700 		3 123852907 intron variant G/A snv 0.45
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs1382893400
rs1382893400 		1.000 3 123666227 stop gained G/A snv 4.0E-06
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 1.000 1 2010 2010
dbSNP: rs1430822242
rs1430822242 		1.000 3 123648970 splice donor variant C/T snv 4.0E-06
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 1.000 1 2010 2010
dbSNP: rs1553781304
rs1553781304 		1.000 3 123649014 stop gained G/A snv
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 1.000 1 2017 2017
dbSNP: rs1553785222
rs1553785222 		1.000 3 123657412 frameshift variant -/G delins
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 1.000 1 2010 2010
dbSNP: rs1553787619
rs1553787619 		1.000 0.040 3 123664100 splice region variant C/A snv
CUI: C1855311
Disease: Megacystis
Megacystis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs1553787619
rs1553787619 		1.000 0.040 3 123664100 splice region variant C/A snv
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553787823
rs1553787823 		0.882 0.120 3 123664245 frameshift variant -/GCTTTCC delins
CUI: C0266200
Disease: Microcolon
Microcolon 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553787823
rs1553787823 		0.882 0.120 3 123664245 frameshift variant -/GCTTTCC delins
CUI: C2931117
Disease: Fetal megacystis
Fetal megacystis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2017 2017
dbSNP: rs1553787823
rs1553787823 		0.882 0.120 3 123664245 frameshift variant -/GCTTTCC delins
CUI: C0042781
Disease: Visceral Myopathy
Visceral Myopathy 		Digestive System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1553787823
rs1553787823 		0.882 0.120 3 123664245 frameshift variant -/GCTTTCC delins
CUI: C0149632
Disease: Abnormality of the bladder
Abnormality of the bladder 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2682204
rs2682204 		0.925 0.040 3 123837617 intron variant T/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs2682204
rs2682204 		0.925 0.040 3 123837617 intron variant T/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs820343
rs820343 		0.925 0.040 3 123713665 intron variant T/A;C snv
CUI: C0410702
Disease: Adolescent idiopathic scoliosis
Adolescent idiopathic scoliosis 		Musculoskeletal Diseases 0.700 1.000 1 2018 2018
dbSNP: rs820343
rs820343 		0.925 0.040 3 123713665 intron variant T/A;C snv
CUI: C1837461
Disease: SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2018 2018
dbSNP: rs886229659
rs886229659 		1.000 3 123647384 stop gained G/A;C snv 4.0E-06
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 1.000 1 2017 2017
dbSNP: rs1060502531
rs1060502531 		1.000 3 123647350 frameshift variant TATGC/- del
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 0
dbSNP: rs150936840
rs150936840 		1.000 3 123707995 missense variant C/A;T snv 3.6E-04; 9.2E-05
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 0
dbSNP: rs1553780501
rs1553780501 		1.000 3 123647222 splice donor variant A/C snv
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 0
dbSNP: rs1553808296
rs1553808296 		0.925 0.040 3 123707752 splice donor variant A/G snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs1553808296
rs1553808296 		0.925 0.040 3 123707752 splice donor variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs387906781
rs387906781 		0.925 3 123620300 missense variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 0
dbSNP: rs387906782
rs387906782 		1.000 3 123647405 stop gained G/A snv
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 0