MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 ×
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: 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: 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: 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
dbSNP: rs778050996
rs778050996 		1.000 3 123738980 stop gained G/A snv 1.2E-05 2.1E-05
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 0
dbSNP: rs928811814
rs928811814 		1.000 3 123733091 missense variant G/A snv 4.0E-06
CUI: C3151077
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 0