rs140603

Orientation

minus

Stabilized

minus

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

Make rs140603(C;T)

Make rs140603(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48503845

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs140603
dbSNP (classic)	rs140603
ClinGen	rs140603
ebi	rs140603
HLI	rs140603
Exac	rs140603
Gnomad	rs140603
Varsome	rs140603
LitVar	rs140603
Map	rs140603
PheGenI	rs140603
Biobank	rs140603
1000 genomes	rs140603
hgdp	rs140603
ensembl	rs140603
geneview	rs140603
scholar	rs140603
google	rs140603
pharmgkb	rs140603
gwascentral	rs140603
openSNP	rs140603
23andMe	rs140603
SNPshot	rs140603
SNPdbe	rs140603
MSV3d	rs140603
GWAS Ctlg	rs140603

GMAF

0.002755

Max Magnitude

6.5

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs140603(A;A) rs140603(G;G) rs140603(T;T)
Alt	rs140603(A;A) rs140603(G;G) rs140603(T;T)
Reference	Rs140603(C;C)
Significance	Pathogenic
Disease	Marfan syndrome not specified not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not specified not provided Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000015.9:g.48796042G>A; NC_000015.9:g.48796042G>C; NC_000015.9:g.48796042G>T
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029704.1, RCV000181397.1, RCV000430970.1, RCV000461940.1, RCV000029703.5, RCV000181443.1,

[PMID 12203992] TGGE screening of the entire FBN1 coding sequence in 126 individuals with marfan syndrome and related fibrillinopathies.

[PMID 12938084] Update of the UMD-FBN1 mutation database and creation of an FBN1 polymorphism database.

[PMID 15241795] Comprehensive molecular screening of the FBN1 gene favors locus homogeneity of classical Marfan syndrome.

[PMID 16342915] Marfan syndrome--a diagnostic challenge caused by phenotypic and genetic heterogeneity.