rs397515802

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 rs397515802(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48472665

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515802
dbSNP (classic)	rs397515802
ClinGen	rs397515802
ebi	rs397515802
HLI	rs397515802
Exac	rs397515802
Gnomad	rs397515802
Varsome	rs397515802
LitVar	rs397515802
Map	rs397515802
PheGenI	rs397515802
Biobank	rs397515802
1000 genomes	rs397515802
hgdp	rs397515802
ensembl	rs397515802
geneview	rs397515802
scholar	rs397515802
google	rs397515802
pharmgkb	rs397515802
gwascentral	rs397515802
openSNP	rs397515802
23andMe	rs397515802
SNPshot	rs397515802
SNPdbe	rs397515802
MSV3d	rs397515802
GWAS Ctlg	rs397515802

Max Magnitude

6.5

ClinVar
Risk	rs397515802(C;C)
Alt	rs397515802(C;C)
Reference	Rs397515802(T;T)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48764862A>G
CLNSRC	ClinVar
CLNACC	RCV000035190.2,