rs140630

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 rs140630(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

15

Position

48465580

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs140630
dbSNP (classic)	rs140630
ClinGen	rs140630
ebi	rs140630
HLI	rs140630
Exac	rs140630
Gnomad	rs140630
Varsome	rs140630
LitVar	rs140630
Map	rs140630
PheGenI	rs140630
Biobank	rs140630
1000 genomes	rs140630
hgdp	rs140630
ensembl	rs140630
geneview	rs140630
scholar	rs140630
google	rs140630
pharmgkb	rs140630
gwascentral	rs140630
openSNP	rs140630
23andMe	rs140630
SNPshot	rs140630
SNPdbe	rs140630
MSV3d	rs140630
GWAS Ctlg	rs140630

Max Magnitude

6.5

?	(C;C) (C;T) (T;T)	28

ClinVar
Risk	rs140630(T;T)
Alt	rs140630(T;T)
Reference	Rs140630(C;C)
Significance	Pathogenic
Disease	not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	not provided Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000015.9:g.48757777G>A
CLNSRC
CLNACC	RCV000181693.2, RCV000245773.1,