rs387906781

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;T)	5.5	Thoracic aortic aneurysm and dissection mutation
(T;T)	0	common in clinvar

Make rs387906781(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

123620300

Gene	MYLK, MYLK-AS1

is a	snp
is	mentioned by
dbSNP	rs387906781
dbSNP (classic)	rs387906781
ClinGen	rs387906781
ebi	rs387906781
HLI	rs387906781
Exac	rs387906781
Gnomad	rs387906781
Varsome	rs387906781
LitVar	rs387906781
Map	rs387906781
PheGenI	rs387906781
Biobank	rs387906781
1000 genomes	rs387906781
hgdp	rs387906781
ensembl	rs387906781
geneview	rs387906781
scholar	rs387906781
google	rs387906781
pharmgkb	rs387906781
gwascentral	rs387906781
openSNP	rs387906781
23andMe	rs387906781
SNPshot	rs387906781
SNPdbe	rs387906781
MSV3d	rs387906781
GWAS Ctlg	rs387906781

Max Magnitude

5.5

c.5275T>C (p.Ser1759Pro)

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

ClinVar
Risk	rs387906781(C;C)
Alt	rs387906781(C;C)
Reference	Rs387906781(T;T)
Significance	Pathogenic
Disease	Aortic aneurysm
Variation	info
Gene	MYLK MYLK-AS1
CLNDBN	Aortic aneurysm, familial thoracic 7
Reversed	1
HGVS	NC_000003.11:g.123339147A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000023044.3,