rs397515819

Orientation

minus

Stabilized

minus

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

Make rs397515819(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48463241

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515819
dbSNP (classic)	rs397515819
ClinGen	rs397515819
ebi	rs397515819
HLI	rs397515819
Exac	rs397515819
Gnomad	rs397515819
Varsome	rs397515819
LitVar	rs397515819
Map	rs397515819
PheGenI	rs397515819
Biobank	rs397515819
1000 genomes	rs397515819
hgdp	rs397515819
ensembl	rs397515819
geneview	rs397515819
scholar	rs397515819
google	rs397515819
pharmgkb	rs397515819
gwascentral	rs397515819
openSNP	rs397515819
23andMe	rs397515819
SNPshot	rs397515819
SNPdbe	rs397515819
MSV3d	rs397515819
GWAS Ctlg	rs397515819

Max Magnitude

6.5

ClinVar
Risk	rs397515819(C;C)
Alt	rs397515819(C;C)
Reference	Rs397515819(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48755438C>G
CLNSRC	ClinVar
CLNACC	RCV000035219.2,