rs137854465

Orientation

minus

Stabilized

minus

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

Make rs137854465(C;C)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48488230

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854465
dbSNP (classic)	rs137854465
ClinGen	rs137854465
ebi	rs137854465
HLI	rs137854465
Exac	rs137854465
Gnomad	rs137854465
Varsome	rs137854465
LitVar	rs137854465
Map	rs137854465
PheGenI	rs137854465
Biobank	rs137854465
1000 genomes	rs137854465
hgdp	rs137854465
ensembl	rs137854465
geneview	rs137854465
scholar	rs137854465
google	rs137854465
pharmgkb	rs137854465
gwascentral	rs137854465
openSNP	rs137854465
23andMe	rs137854465
SNPshot	rs137854465
SNPdbe	rs137854465
MSV3d	rs137854465
GWAS Ctlg	rs137854465

Max Magnitude

5.5

OMIM	134797
Desc
Variant	0016
Related	also

ClinVar
Risk	rs137854465(C;C)
Alt	rs137854465(C;C)
Reference	Rs137854465(T;T)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome, neonatal
Reversed	1
HGVS	NC_000015.9:g.48780427A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017900.27,