rs137854463

Orientation

minus

Stabilized

minus

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

Make rs137854463(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48497391

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854463
dbSNP (classic)	rs137854463
ClinGen	rs137854463
ebi	rs137854463
HLI	rs137854463
Exac	rs137854463
Gnomad	rs137854463
Varsome	rs137854463
LitVar	rs137854463
Map	rs137854463
PheGenI	rs137854463
Biobank	rs137854463
1000 genomes	rs137854463
hgdp	rs137854463
ensembl	rs137854463
geneview	rs137854463
scholar	rs137854463
google	rs137854463
pharmgkb	rs137854463
gwascentral	rs137854463
openSNP	rs137854463
23andMe	rs137854463
SNPshot	rs137854463
SNPdbe	rs137854463
MSV3d	rs137854463
GWAS Ctlg	rs137854463

Max Magnitude

5.5

OMIM	134797
Desc
Variant	0011
Related	also

ClinVar
Risk	rs137854463(C;C)
Alt	rs137854463(C;C)
Reference	Rs137854463(A;A)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48789588T>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017895.28,