rs137854482

Orientation

minus

Stabilized

minus

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

Make rs137854482(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48487389

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854482
dbSNP (classic)	rs137854482
ClinGen	rs137854482
ebi	rs137854482
HLI	rs137854482
Exac	rs137854482
Gnomad	rs137854482
Varsome	rs137854482
LitVar	rs137854482
Map	rs137854482
PheGenI	rs137854482
Biobank	rs137854482
1000 genomes	rs137854482
hgdp	rs137854482
ensembl	rs137854482
geneview	rs137854482
scholar	rs137854482
google	rs137854482
pharmgkb	rs137854482
gwascentral	rs137854482
openSNP	rs137854482
23andMe	rs137854482
SNPshot	rs137854482
SNPdbe	rs137854482
MSV3d	rs137854482
GWAS Ctlg	rs137854482

Max Magnitude

5.5

OMIM	134797
Desc
Variant	0044
Related	also

ClinVar
Risk	rs137854482(A;A)
Alt	rs137854482(A;A)
Reference	Rs137854482(G;G)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48779586C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017927.27,