rs137854469

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs137854469(A;A)

Make rs137854469(A;G)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48485418

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854469
dbSNP (classic)	rs137854469
ClinGen	rs137854469
ebi	rs137854469
HLI	rs137854469
Exac	rs137854469
Gnomad	rs137854469
Varsome	rs137854469
LitVar	rs137854469
Map	rs137854469
PheGenI	rs137854469
Biobank	rs137854469
1000 genomes	rs137854469
hgdp	rs137854469
ensembl	rs137854469
geneview	rs137854469
scholar	rs137854469
google	rs137854469
pharmgkb	rs137854469
gwascentral	rs137854469
openSNP	rs137854469
23andMe	rs137854469
SNPshot	rs137854469
SNPdbe	rs137854469
MSV3d	rs137854469
GWAS Ctlg	rs137854469

Max Magnitude

0

OMIM	134797
Desc
Variant	0022
Related	also

ClinVar
Risk	rs137854469(A;A) rs137854469(T;T)
Alt	rs137854469(A;A) rs137854469(T;T)
Reference	Rs137854469(G;G)
Significance	Pathogenic
Disease	not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000015.9:g.48777615C>A; NC_000015.9:g.48777615C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000181691.1, RCV000017906.28, RCV000242083.1,