rs113812345

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.5	Familial thoracic aortic aneurysms and dissections (FTAAD)
(T;T)	6	Marfan syndrome mutation

Reference

GRCh38 38.1/141

Chromosome

15

Position

48513591

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs113812345
dbSNP (classic)	rs113812345
ClinGen	rs113812345
ebi	rs113812345
HLI	rs113812345
Exac	rs113812345
Gnomad	rs113812345
Varsome	rs113812345
LitVar	rs113812345
Map	rs113812345
PheGenI	rs113812345
Biobank	rs113812345
1000 genomes	rs113812345
hgdp	rs113812345
ensembl	rs113812345
geneview	rs113812345
scholar	rs113812345
google	rs113812345
pharmgkb	rs113812345
gwascentral	rs113812345
openSNP	rs113812345
23andMe	rs113812345
SNPshot	rs113812345
SNPdbe	rs113812345
MSV3d	rs113812345
GWAS Ctlg	rs113812345

Max Magnitude

6.5

rs113812345, also known as c.1546C>T, p.Arg516Ter and R516X, represents a mutation in the FBN1 gene on chromosome 15.

The rare (T) allele is considered pathogenic for Marfan syndrome in ClinVar by multiple sources.

rs113812345 appears to be tested under the name i5043856 by 23andMe on some of their chips.

ClinVar
Risk	Rs113812345(T;T)
Alt	Rs113812345(T;T)
Reference	Rs113812345(C;C)
Significance	Pathogenic
Disease	Marfan syndrome not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000015.9:g.48805788G>A
CLNSRC	ClinVar
CLNACC	RCV000035118.2, RCV000181420.2, RCV000247207.1,