rs397515823

Orientation

minus

Stabilized

minus

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

Make rs397515823(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48452595

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515823
dbSNP (classic)	rs397515823
ClinGen	rs397515823
ebi	rs397515823
HLI	rs397515823
Exac	rs397515823
Gnomad	rs397515823
Varsome	rs397515823
LitVar	rs397515823
Map	rs397515823
PheGenI	rs397515823
Biobank	rs397515823
1000 genomes	rs397515823
hgdp	rs397515823
ensembl	rs397515823
geneview	rs397515823
scholar	rs397515823
google	rs397515823
pharmgkb	rs397515823
gwascentral	rs397515823
openSNP	rs397515823
23andMe	rs397515823
SNPshot	rs397515823
SNPdbe	rs397515823
MSV3d	rs397515823
GWAS Ctlg	rs397515823

Max Magnitude

6.5

ClinVar
Risk	rs397515823(T;T)
Alt	rs397515823(T;T)
Reference	Rs397515823(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48744792C>A
CLNSRC	ClinVar
CLNACC	RCV000035228.2,