rs387906782

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.5	Familial thoracic aortic aneurysms and dissections (FTAAD)

Make rs387906782(T;T)

Reference

GRCh38 38.1/141

Chromosome

3

Position

123647405

Gene

MYLK

is a	snp
is	mentioned by
dbSNP	rs387906782
dbSNP (classic)	rs387906782
ClinGen	rs387906782
ebi	rs387906782
HLI	rs387906782
Exac	rs387906782
Gnomad	rs387906782
Varsome	rs387906782
LitVar	rs387906782
Map	rs387906782
PheGenI	rs387906782
Biobank	rs387906782
1000 genomes	rs387906782
hgdp	rs387906782
ensembl	rs387906782
geneview	rs387906782
scholar	rs387906782
google	rs387906782
pharmgkb	rs387906782
gwascentral	rs387906782
openSNP	rs387906782
23andMe	rs387906782
SNPshot	rs387906782
SNPdbe	rs387906782
MSV3d	rs387906782
GWAS Ctlg	rs387906782

Max Magnitude

6.5

c.4438C>T (p.Arg1480Ter)

[PMID 21055718] Mutations in myosin light chain kinase cause familial aortic dissections

ClinVar
Risk	rs387906782(T;T)
Alt	rs387906782(T;T)
Reference	Rs387906782(C;C)
Significance	Pathogenic
Disease	Aortic aneurysm
Variation	info
Gene	MYLK
CLNDBN	Aortic aneurysm, familial thoracic 7
Reversed	1
HGVS	NC_000003.11:g.123366252G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023045.2,