rs397515791

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;G)	6.5	Familial thoracic aortic aneurysms and dissections (FTAAD)
(G;G)	0	common in clinvar
(G;T)	5.5	Marfan syndrome mutation

Make rs397515791(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48487362

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515791
dbSNP (classic)	rs397515791
ClinGen	rs397515791
ebi	rs397515791
HLI	rs397515791
Exac	rs397515791
Gnomad	rs397515791
Varsome	rs397515791
LitVar	rs397515791
Map	rs397515791
PheGenI	rs397515791
Biobank	rs397515791
1000 genomes	rs397515791
hgdp	rs397515791
ensembl	rs397515791
geneview	rs397515791
scholar	rs397515791
google	rs397515791
pharmgkb	rs397515791
gwascentral	rs397515791
openSNP	rs397515791
23andMe	rs397515791
SNPshot	rs397515791
SNPdbe	rs397515791
MSV3d	rs397515791
GWAS Ctlg	rs397515791

Max Magnitude

6.5

ClinVar
Risk	rs397515791(T;T)
Alt	rs397515791(T;T)
Reference	Rs397515791(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48779559C>A
CLNSRC	ClinVar
CLNACC	RCV000035169.2,