rs730880101

Orientation

minus

Stabilized

minus

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

Make rs730880101(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48470640

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs730880101
dbSNP (classic)	rs730880101
ClinGen	rs730880101
ebi	rs730880101
HLI	rs730880101
Exac	rs730880101
Gnomad	rs730880101
Varsome	rs730880101
LitVar	rs730880101
Map	rs730880101
PheGenI	rs730880101
Biobank	rs730880101
1000 genomes	rs730880101
hgdp	rs730880101
ensembl	rs730880101
geneview	rs730880101
scholar	rs730880101
google	rs730880101
pharmgkb	rs730880101
gwascentral	rs730880101
openSNP	rs730880101
23andMe	rs730880101
SNPshot	rs730880101
SNPdbe	rs730880101
MSV3d	rs730880101
GWAS Ctlg	rs730880101

Max Magnitude

6.5

ClinVar
Risk	rs730880101(C;C)
Alt	rs730880101(C;C)
Reference	Rs730880101(T;T)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48762837A>G
CLNSRC
CLNACC	RCV000157228.1,