rs137854479

Orientation

minus

Stabilized

minus

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

Make rs137854479(G;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48497298

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854479
dbSNP (classic)	rs137854479
ClinGen	rs137854479
ebi	rs137854479
HLI	rs137854479
Exac	rs137854479
Gnomad	rs137854479
Varsome	rs137854479
LitVar	rs137854479
Map	rs137854479
PheGenI	rs137854479
Biobank	rs137854479
1000 genomes	rs137854479
hgdp	rs137854479
ensembl	rs137854479
geneview	rs137854479
scholar	rs137854479
google	rs137854479
pharmgkb	rs137854479
gwascentral	rs137854479
openSNP	rs137854479
23andMe	rs137854479
SNPshot	rs137854479
SNPdbe	rs137854479
MSV3d	rs137854479
GWAS Ctlg	rs137854479

Merged from

Rs28929500

Max Magnitude

6.5

OMIM	134797
Desc
Variant	0041
Related	also

ClinVar
Risk	rs137854479(G;G)
Alt	rs137854479(G;G)
Reference	Rs137854479(A;A)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48789495T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017923.28,