rs397515848

Orientation

minus

Stabilized

minus

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

Make rs397515848(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48427591

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515848
dbSNP (classic)	rs397515848
ClinGen	rs397515848
ebi	rs397515848
HLI	rs397515848
Exac	rs397515848
Gnomad	rs397515848
Varsome	rs397515848
LitVar	rs397515848
Map	rs397515848
PheGenI	rs397515848
Biobank	rs397515848
1000 genomes	rs397515848
hgdp	rs397515848
ensembl	rs397515848
geneview	rs397515848
scholar	rs397515848
google	rs397515848
pharmgkb	rs397515848
gwascentral	rs397515848
openSNP	rs397515848
23andMe	rs397515848
SNPshot	rs397515848
SNPdbe	rs397515848
MSV3d	rs397515848
GWAS Ctlg	rs397515848

Max Magnitude

6.5

ClinVar
Risk	rs397515848(T;T)
Alt	rs397515848(T;T)
Reference	Rs397515848(C;C)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48719788G>A
CLNSRC	ClinVar
CLNACC	RCV000035267.2,