rs397515805

Orientation

minus

Stabilized

minus

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

Make rs397515805(A;A)

Make rs397515805(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48470726

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs397515805
dbSNP (classic)	rs397515805
ClinGen	rs397515805
ebi	rs397515805
HLI	rs397515805
Exac	rs397515805
Gnomad	rs397515805
Varsome	rs397515805
LitVar	rs397515805
Map	rs397515805
PheGenI	rs397515805
Biobank	rs397515805
1000 genomes	rs397515805
hgdp	rs397515805
ensembl	rs397515805
geneview	rs397515805
scholar	rs397515805
google	rs397515805
pharmgkb	rs397515805
gwascentral	rs397515805
openSNP	rs397515805
23andMe	rs397515805
SNPshot	rs397515805
SNPdbe	rs397515805
MSV3d	rs397515805
GWAS Ctlg	rs397515805

Max Magnitude

6.5

ClinVar
Risk	rs397515805(A;A) rs397515805(C;C) rs397515805(T;T)
Alt	rs397515805(A;A) rs397515805(C;C) rs397515805(T;T)
Reference	Rs397515805(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48762923C>A; NC_000015.9:g.48762923C>G; NC_000015.9:g.48762923C>T
CLNSRC	ClinVar
CLNACC	RCV000475879.1, RCV000035199.2, RCV000035196.2,