rs113249837

Orientation

minus

Stabilized

minus

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

Make rs113249837(T;T)

Reference

GRCh38 38.1/142

Chromosome

15

Position

48456691

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs113249837
dbSNP (classic)	rs113249837
ClinGen	rs113249837
ebi	rs113249837
HLI	rs113249837
Exac	rs113249837
Gnomad	rs113249837
Varsome	rs113249837
LitVar	rs113249837
Map	rs113249837
PheGenI	rs113249837
Biobank	rs113249837
1000 genomes	rs113249837
hgdp	rs113249837
ensembl	rs113249837
geneview	rs113249837
scholar	rs113249837
google	rs113249837
pharmgkb	rs113249837
gwascentral	rs113249837
openSNP	rs113249837
23andMe	rs113249837
SNPshot	rs113249837
SNPdbe	rs113249837
MSV3d	rs113249837
GWAS Ctlg	rs113249837

Max Magnitude

6.5

ClinVar
Risk	rs113249837(T;T)
Alt	rs113249837(T;T)
Reference	Rs113249837(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.48748888G>A
CLNSRC	ClinVar
CLNACC	RCV000035224.2, RCV000181541.1, RCV000250364.1,