rs113086760

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5.5	Marfan syndrome mutation

Make rs113086760(T;T)

Reference

GRCh38.p7 38.3/150

Chromosome

15

Position

48448851

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs113086760
dbSNP (classic)	rs113086760
ClinGen	rs113086760
ebi	rs113086760
HLI	rs113086760
Exac	rs113086760
Gnomad	rs113086760
Varsome	rs113086760
LitVar	rs113086760
Map	rs113086760
PheGenI	rs113086760
Biobank	rs113086760
1000 genomes	rs113086760
hgdp	rs113086760
ensembl	rs113086760
geneview	rs113086760
scholar	rs113086760
google	rs113086760
pharmgkb	rs113086760
gwascentral	rs113086760
openSNP	rs113086760
23andMe	rs113086760
SNPshot	rs113086760
SNPdbe	rs113086760
MSV3d	rs113086760
GWAS Ctlg	rs113086760

Max Magnitude

5.5

ClinVar
Risk	rs113086760(T;T)
Alt	rs113086760(T;T)
Reference	Rs113086760(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	0
HGVS	NC_000015.9:g.48741048C>T
CLNSRC	ClinVar
CLNACC	RCV000035230.2,