rs137854481

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 rs137854481(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48488481

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854481
dbSNP (classic)	rs137854481
ClinGen	rs137854481
ebi	rs137854481
HLI	rs137854481
Exac	rs137854481
Gnomad	rs137854481
Varsome	rs137854481
LitVar	rs137854481
Map	rs137854481
PheGenI	rs137854481
Biobank	rs137854481
1000 genomes	rs137854481
hgdp	rs137854481
ensembl	rs137854481
geneview	rs137854481
scholar	rs137854481
google	rs137854481
pharmgkb	rs137854481
gwascentral	rs137854481
openSNP	rs137854481
23andMe	rs137854481
SNPshot	rs137854481
SNPdbe	rs137854481
MSV3d	rs137854481
GWAS Ctlg	rs137854481

Merged from

Rs28929501

Max Magnitude

6.5

OMIM	134797
Desc
Variant	0043
Related	also

ClinVar
Risk	rs137854481(A;A)
Alt	rs137854481(A;A)
Reference	Rs137854481(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome, neonatal
Reversed	1
HGVS	NC_000015.9:g.48780678C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017926.27,