rs111401431

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs111401431(C;T)

Make rs111401431(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48468097

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs111401431
dbSNP (classic)	rs111401431
ClinGen	rs111401431
ebi	rs111401431
HLI	rs111401431
Exac	rs111401431
Gnomad	rs111401431
Varsome	rs111401431
LitVar	rs111401431
Map	rs111401431
PheGenI	rs111401431
Biobank	rs111401431
1000 genomes	rs111401431
hgdp	rs111401431
ensembl	rs111401431
geneview	rs111401431
scholar	rs111401431
google	rs111401431
pharmgkb	rs111401431
gwascentral	rs111401431
openSNP	rs111401431
23andMe	rs111401431
SNPshot	rs111401431
SNPdbe	rs111401431
MSV3d	rs111401431
GWAS Ctlg	rs111401431

Max Magnitude

0

ClinVar
Risk	rs111401431(T;T)
Alt	rs111401431(T;T)
Reference	Rs111401431(C;C)
Significance	Pathogenic
Disease	Marfan syndrome Thoracic aortic aneurysm and aortic dissection Ectopia lentis Aortic aneurysm
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome Thoracic aortic aneurysm and aortic dissection Ectopia lentis, isolated, autosomal dominant Aortic aneurysm, ascending, and dissection
Reversed	1
HGVS	NC_000015.9:g.48760294G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000029740.4, RCV000254448.1, RCV000261433.1, RCV000316666.1,

[PMID 19941] Cerebral hemodynamic and metabolic alterations in hypovolemic shock.

[PMID 15054843] Ectopia lentis phenotypes and the FBN1 gene.

[PMID 17253931] Rapid and efficient FBN1 mutation detection using automated sample preparation and direct sequencing as the primary strategy.

[PMID 17663468] Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome.

[PMID 18615205] Late-onset bilateral lens dislocation and glaucoma associated with a novel mutation in FBN1.

[PMID 19863550] Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation.