rs137854471

Orientation

minus

Stabilized

minus

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

Make rs137854471(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48483931

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854471
dbSNP (classic)	rs137854471
ClinGen	rs137854471
ebi	rs137854471
HLI	rs137854471
Exac	rs137854471
Gnomad	rs137854471
Varsome	rs137854471
LitVar	rs137854471
Map	rs137854471
PheGenI	rs137854471
Biobank	rs137854471
1000 genomes	rs137854471
hgdp	rs137854471
ensembl	rs137854471
geneview	rs137854471
scholar	rs137854471
google	rs137854471
pharmgkb	rs137854471
gwascentral	rs137854471
openSNP	rs137854471
23andMe	rs137854471
SNPshot	rs137854471
SNPdbe	rs137854471
MSV3d	rs137854471
GWAS Ctlg	rs137854471

Max Magnitude

6.5

OMIM	134797
Desc
Variant	0026
Related	also

ClinVar
Risk	rs137854471(A;A)
Alt	rs137854471(A;A)
Reference	Rs137854471(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48776128C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017891.27,