rs730880105

Orientation

minus

Stabilized

minus

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

Make rs730880105(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48503785

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs730880105
dbSNP (classic)	rs730880105
ClinGen	rs730880105
ebi	rs730880105
HLI	rs730880105
Exac	rs730880105
Gnomad	rs730880105
Varsome	rs730880105
LitVar	rs730880105
Map	rs730880105
PheGenI	rs730880105
Biobank	rs730880105
1000 genomes	rs730880105
hgdp	rs730880105
ensembl	rs730880105
geneview	rs730880105
scholar	rs730880105
google	rs730880105
pharmgkb	rs730880105
gwascentral	rs730880105
openSNP	rs730880105
23andMe	rs730880105
SNPshot	rs730880105
SNPdbe	rs730880105
MSV3d	rs730880105
GWAS Ctlg	rs730880105

Max Magnitude

6.5

ClinVar
Risk	rs730880105(C;C) rs730880105(G;G)
Alt	rs730880105(C;C) rs730880105(G;G)
Reference	Rs730880105(T;T)
Significance	Probable-Pathogenic
Disease	not provided Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	not provided Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48795982A>C; NC_000015.9:g.48795982A>G
CLNSRC
CLNACC	RCV000443476.1, RCV000157232.1,