rs587782946

Orientation

minus

Stabilized

minus

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

Make rs587782946(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48470688

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs587782946
dbSNP (classic)	rs587782946
ClinGen	rs587782946
ebi	rs587782946
HLI	rs587782946
Exac	rs587782946
Gnomad	rs587782946
Varsome	rs587782946
LitVar	rs587782946
Map	rs587782946
PheGenI	rs587782946
Biobank	rs587782946
1000 genomes	rs587782946
hgdp	rs587782946
ensembl	rs587782946
geneview	rs587782946
scholar	rs587782946
google	rs587782946
pharmgkb	rs587782946
gwascentral	rs587782946
openSNP	rs587782946
23andMe	rs587782946
SNPshot	rs587782946
SNPdbe	rs587782946
MSV3d	rs587782946
GWAS Ctlg	rs587782946

Max Magnitude

5.5

ClinVar
Risk	rs587782946(T;T)
Alt	rs587782946(T;T)
Reference	Rs587782946(C;C)
Significance	Probable-Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48762885G>A
CLNSRC
CLNACC	RCV000143893.1,