rs397515847

Orientation

minus

Stabilized

minus

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

Make rs397515847(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48427603

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515847
dbSNP (classic)	rs397515847
ClinGen	rs397515847
ebi	rs397515847
HLI	rs397515847
Exac	rs397515847
Gnomad	rs397515847
Varsome	rs397515847
LitVar	rs397515847
Map	rs397515847
PheGenI	rs397515847
Biobank	rs397515847
1000 genomes	rs397515847
hgdp	rs397515847
ensembl	rs397515847
geneview	rs397515847
scholar	rs397515847
google	rs397515847
pharmgkb	rs397515847
gwascentral	rs397515847
openSNP	rs397515847
23andMe	rs397515847
SNPshot	rs397515847
SNPdbe	rs397515847
MSV3d	rs397515847
GWAS Ctlg	rs397515847

Max Magnitude

6.5

ClinVar
Risk	rs397515847(C;C)
Alt	rs397515847(C;C)
Reference	Rs397515847(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48719800A>G
CLNSRC	ClinVar
CLNACC	RCV000035266.3,