MYLK, myosin light chain kinase, 4638

N. diseases: 199; N. variants: 28
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: rs1343700
rs1343700
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0021704
Disease:
Intelligence 		A 0.700 GeneticVariation GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
dbSNP: rs2682204
rs2682204
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0410702
Disease:
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
dbSNP: rs2682204
rs2682204
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C1837461
Disease:
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
dbSNP: rs820343
rs820343
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C0410702
Disease:
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
dbSNP: rs820343
rs820343
Entrez Id: 4638;105369194
Gene Symbol: MYLK;LOC105369194
MYLK;LOC105369194
CUI: C1837461
Disease:
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
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: rs1553787619
rs1553787619
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0042781
Disease:
Visceral Myopathy 		A 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787619
rs1553787619
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C1855311
Disease:
Megacystis 		A 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C2931117
Disease:
Fetal megacystis 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0042781
Disease:
Visceral Myopathy 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0149632
Disease:
Abnormality of the bladder 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 2017
dbSNP: rs1553787823
rs1553787823
Entrez Id: 4638
Gene Symbol: MYLK
MYLK
CUI: C0266200
Disease:
Microcolon 		TCGCTTTC 0.700 CausalMutation CLINVAR Loss-of-Function Variants in MYLK Cause Recessive Megacystis Microcolon Intestinal Hypoperistalsis Syndrome. 28602422 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