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rs387906781

From SNPedia

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


Make rs387906781(C;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position123620300
GeneMYLK, MYLK-AS1
is asnp
is mentioned by
dbSNPrs387906781
dbSNP (classic)rs387906781
ClinGenrs387906781
ebirs387906781
HLIrs387906781
Exacrs387906781
Gnomadrs387906781
Varsomers387906781
LitVarrs387906781
Maprs387906781
PheGenIrs387906781
Biobankrs387906781
1000 genomesrs387906781
hgdprs387906781
ensemblrs387906781
geneviewrs387906781
scholarrs387906781
googlers387906781
pharmgkbrs387906781
gwascentralrs387906781
openSNPrs387906781
23andMers387906781
SNPshotrs387906781
SNPdbers387906781
MSV3drs387906781
GWAS Ctlgrs387906781
Max Magnitude5.5

c.5275T>C (p.Ser1759Pro)

[PMID 21055718OA-icon.png] 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,