rs137854473

Orientation

minus

Stabilized

minus

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

Make rs137854473(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48487384

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854473
dbSNP (classic)	rs137854473
ClinGen	rs137854473
ebi	rs137854473
HLI	rs137854473
Exac	rs137854473
Gnomad	rs137854473
Varsome	rs137854473
LitVar	rs137854473
Map	rs137854473
PheGenI	rs137854473
Biobank	rs137854473
1000 genomes	rs137854473
hgdp	rs137854473
ensembl	rs137854473
geneview	rs137854473
scholar	rs137854473
google	rs137854473
pharmgkb	rs137854473
gwascentral	rs137854473
openSNP	rs137854473
23andMe	rs137854473
SNPshot	rs137854473
SNPdbe	rs137854473
MSV3d	rs137854473
GWAS Ctlg	rs137854473

Max Magnitude

5.5

OMIM	134797
Desc
Variant	0028
Related	also

ClinVar
Risk	rs137854473(T;T)
Alt	rs137854473(T;T)
Reference	Rs137854473(A;A)
Significance	Pathogenic
Disease	Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome, neonatal
Reversed	1
HGVS	NC_000015.9:g.48779581T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017910.28,