rs587782947

Orientation

minus

Stabilized

minus

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

Make rs587782947(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48446711

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs587782947
dbSNP (classic)	rs587782947
ClinGen	rs587782947
ebi	rs587782947
HLI	rs587782947
Exac	rs587782947
Gnomad	rs587782947
Varsome	rs587782947
LitVar	rs587782947
Map	rs587782947
PheGenI	rs587782947
Biobank	rs587782947
1000 genomes	rs587782947
hgdp	rs587782947
ensembl	rs587782947
geneview	rs587782947
scholar	rs587782947
google	rs587782947
pharmgkb	rs587782947
gwascentral	rs587782947
openSNP	rs587782947
23andMe	rs587782947
SNPshot	rs587782947
SNPdbe	rs587782947
MSV3d	rs587782947
GWAS Ctlg	rs587782947

Max Magnitude

5.5

ClinVar
Risk	rs587782947(T;T)
Alt	rs587782947(T;T)
Reference	Rs587782947(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48738908C>A
CLNSRC
CLNACC	RCV000143894.2,