rs137854468

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	6	Marfan syndrome mutation
(G;G)	0	common in clinvar

Make rs137854468(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48487396

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854468
dbSNP (classic)	rs137854468
ClinGen	rs137854468
ebi	rs137854468
HLI	rs137854468
Exac	rs137854468
Gnomad	rs137854468
Varsome	rs137854468
LitVar	rs137854468
Map	rs137854468
PheGenI	rs137854468
Biobank	rs137854468
1000 genomes	rs137854468
hgdp	rs137854468
ensembl	rs137854468
geneview	rs137854468
scholar	rs137854468
google	rs137854468
pharmgkb	rs137854468
gwascentral	rs137854468
openSNP	rs137854468
23andMe	rs137854468
SNPshot	rs137854468
SNPdbe	rs137854468
MSV3d	rs137854468
GWAS Ctlg	rs137854468

Max Magnitude

6

OMIM	134797
Desc
Variant	0021
Related	also

ClinVar
Risk	rs137854468(A;A)
Alt	rs137854468(A;A)
Reference	Rs137854468(G;G)
Significance	Pathogenic
Disease	Marfan syndrome Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome, mild Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48779593C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017905.27, RCV000029725.1,

[PMID 7762551] A Gly1127Ser mutation in an EGF-like domain of the fibrillin-1 gene is a risk factor for ascending aortic aneurysm and dissection.

[PMID 8882780] Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene.

[PMID 9236141] A major involvement of the cardiovascular system in patients affected by Marfan syndrome: novel mutations in fibrillin 1 gene.

[PMID 9404258] An association between arterial pulse pressure and variation in the fibrillin-1 gene.

[PMID 16571647] The molecular genetics of Marfan syndrome and related disorders.

[PMID 18423350] Marfan syndrome and sudden death within a family - aetiologic, molecular and diagnostic issues at autopsy.