MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
Disease: AORTIC ANEURYSM, FAMILIAL THORACIC 7 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387906781
rs387906781
Entrez Id: 4638;100506826
Gene Symbol: MYLK;MYLK-AS1
MYLK;MYLK-AS1
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.800 GeneticVariation UNIPROT Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs387906781
rs387906781
Entrez Id: 4638;100506826
Gene Symbol: MYLK;MYLK-AS1
MYLK;MYLK-AS1
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		G 0.800 CausalMutation CLINVAR
dbSNP: rs1553781304
rs1553781304
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 CausalMutation CLINVAR Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history. 28401540 2017
dbSNP: rs886229659
rs886229659
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 CausalMutation CLINVAR Two novel MYLK nonsense mutations causing thoracic aortic aneurysms/dissections in patients without apparent family history. 28401540 2017
dbSNP: rs368390254
rs368390254
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 GeneticVariation UNIPROT ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 25356965 2015
dbSNP: rs368390254
rs368390254
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 GeneticVariation UNIPROT Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. 24882528 2014
dbSNP: rs368390254
rs368390254
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 GeneticVariation UNIPROT ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
dbSNP: rs1382893400
rs1382893400
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 CausalMutation CLINVAR Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs1430822242
rs1430822242
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		T 0.700 GeneticVariation CLINVAR Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs1553785222
rs1553785222
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		TG 0.700 GeneticVariation CLINVAR Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs368390254
rs368390254
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		0.700 GeneticVariation UNIPROT Mutations in myosin light chain kinase cause familial aortic dissections. 21055718 2010
dbSNP: rs1060502531
rs1060502531
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs150936840
rs150936840
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs1553780501
rs1553780501
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs387906782
rs387906782
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 CausalMutation CLINVAR
dbSNP: rs778050996
rs778050996
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs928811814
rs928811814
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C3151077
Disease:
AORTIC ANEURYSM, FAMILIAL THORACIC 7 		A 0.700 GeneticVariation CLINVAR