rs137854466

minus

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

Make rs137854466(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48411280

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854466
dbSNP (classic)	rs137854466
ClinGen	rs137854466
ebi	rs137854466
HLI	rs137854466
Exac	rs137854466
Gnomad	rs137854466
Varsome	rs137854466
LitVar	rs137854466
Map	rs137854466
PheGenI	rs137854466
Biobank	rs137854466
1000 genomes	rs137854466
hgdp	rs137854466
ensembl	rs137854466
geneview	rs137854466
scholar	rs137854466
google	rs137854466
pharmgkb	rs137854466
gwascentral	rs137854466
openSNP	rs137854466
23andMe	rs137854466
SNPshot	rs137854466
SNPdbe	rs137854466
MSV3d	rs137854466
GWAS Ctlg	rs137854466

Max Magnitude

6.5

OMIM	134797
Desc
Variant	0017
Related	also

ClinVar
Risk	rs137854466(G;G) rs137854466(T;T)
Alt	rs137854466(G;G) rs137854466(T;T)
Reference	Rs137854466(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.48703477G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017901.30, RCV000181630.2, RCV000249596.1,

[PMID 8541880] Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders.

[PMID 8791520] Fibrillln mutations in Marfan syndrome and related phenotypes.

[PMID 9817919] Evidence for furin-type activity-mediated C-terminal processing of profibrillin-1 and interference in the processing by certain mutations.

[PMID 10756346] Clustering of mutations associated with mild Marfan-like phenotypes in the 3' region of FBN1 suggests a potential genotype-phenotype correlation.

[PMID 11143906] Marfan syndrome and fibrillin disorders.

[PMID 11826022 ] Sensitivity of conformation sensitive gel electrophoresis in detecting mutations in Marfan syndrome and related conditions.