rs730880100

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	5.5	Marfan syndrome mutation
(G;G)	0	common in clinvar

Make rs730880100(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48488445

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs730880100
dbSNP (classic)	rs730880100
ClinGen	rs730880100
ebi	rs730880100
HLI	rs730880100
Exac	rs730880100
Gnomad	rs730880100
Varsome	rs730880100
LitVar	rs730880100
Map	rs730880100
PheGenI	rs730880100
Biobank	rs730880100
1000 genomes	rs730880100
hgdp	rs730880100
ensembl	rs730880100
geneview	rs730880100
scholar	rs730880100
google	rs730880100
pharmgkb	rs730880100
gwascentral	rs730880100
openSNP	rs730880100
23andMe	rs730880100
SNPshot	rs730880100
SNPdbe	rs730880100
MSV3d	rs730880100
GWAS Ctlg	rs730880100

Max Magnitude

5.5

ClinVar
Risk	rs730880100(A;A)
Alt	rs730880100(A;A)
Reference	Rs730880100(G;G)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48780642C>T
CLNSRC
CLNACC	RCV000157226.1,