rs200309328

Orientation

plus

Stabilized

plus

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

Make rs200309328(C;C)

Make rs200309328(C;G)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48412715

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs200309328
dbSNP (classic)	rs200309328
ClinGen	rs200309328
ebi	rs200309328
HLI	rs200309328
Exac	rs200309328
Gnomad	rs200309328
Varsome	rs200309328
LitVar	rs200309328
Map	rs200309328
PheGenI	rs200309328
Biobank	rs200309328
1000 genomes	rs200309328
hgdp	rs200309328
ensembl	rs200309328
geneview	rs200309328
scholar	rs200309328
google	rs200309328
pharmgkb	rs200309328
gwascentral	rs200309328
openSNP	rs200309328
23andMe	rs200309328
SNPshot	rs200309328
SNPdbe	rs200309328
MSV3d	rs200309328
GWAS Ctlg	rs200309328

Max Magnitude

6.5

ClinVar
Risk	rs200309328(A;A) rs200309328(C;C)
Alt	rs200309328(A;A) rs200309328(C;C)
Reference	Rs200309328(G;G)
Significance	Pathogenic
Disease	Marfan syndrome not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000015.9:g.48704912G>A; NC_000015.9:g.48704912G>C
CLNSRC
CLNACC	RCV000150695.1, RCV000181617.3, RCV000252245.1,