rs1060502531
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
GeneticVariation
CLINVAR
rs1343700
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Intelligence
A
0.700
GeneticVariation
GWASCAT
Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function.
29844566
2018
rs1382893400
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
CausalMutation
CLINVAR
Mutations in myosin light chain kinase cause familial aortic dissections.
21055718
2010
rs1430822242
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
T
0.700
GeneticVariation
CLINVAR
Mutations in myosin light chain kinase cause familial aortic dissections.
21055718
2010
rs1553780501
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
C
0.700
GeneticVariation
CLINVAR
rs1553781304
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
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
rs1553785222
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
TG
0.700
GeneticVariation
CLINVAR
Mutations in myosin light chain kinase cause familial aortic dissections.
21055718
2010
rs1553787619
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Visceral Myopathy
A
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787619
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Megacystis
A
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787823
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Fetal megacystis
TCGCTTTC
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787823
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Visceral Myopathy
TCGCTTTC
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787823
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Abnormality of the bladder
TCGCTTTC
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs1553787823
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Microcolon
TCGCTTTC
0.700
CausalMutation
CLINVAR
Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.
28602422
2017
rs2682204
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Adolescent idiopathic scoliosis
0.700
GeneticVariation
GWASCAT
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
30019117
2018
rs2682204
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700
GeneticVariation
GWASCAT
The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease.
30019117
2018
rs368390254
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.700
GeneticVariation
UNIPROT
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
23788249
2013
rs368390254
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
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
rs368390254
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.700
GeneticVariation
UNIPROT
Mutations in myosin light chain kinase cause familial aortic dissections.
21055718
2010
rs368390254
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
0.700
GeneticVariation
UNIPROT
Canadian Cardiovascular Society position statement on the management of thoracic aortic disease.
24882528
2014
rs387906782
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
CausalMutation
CLINVAR
rs778050996
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
GeneticVariation
CLINVAR
rs886229659
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
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
rs928811814
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
AORTIC ANEURYSM, FAMILIAL THORACIC 7
A
0.700
GeneticVariation
CLINVAR
rs9840993
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Asthma
0.030
GeneticVariation
BEFREE
We studied 17 MYLK genetic variants in European and African Americans with asthma and severe asthma and identified a single non-synonymous polymorphism (Pro147Ser ) that was almost entirely restricted to African populations and which was associated with severe asthma in African Americans.
17266121
2007
rs9840993
×
Entrez Id:
4638
Gene Symbol:
MYLK
MYLK
Asthma
0.030
GeneticVariation
BEFREE
Three MYLK SNPs (P21H, S147P , V261A) alter the N-terminal amino acid sequence of the non-muscle isoform of MLCK (nmMLCK) and are highly associated with susceptibility to acute lung injury (ALI) and asthma , especially in individuals of African descent.
26111161
2015