rs154001

Orientation

plus

Stabilized

plus

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

Make rs154001(C;T)

Make rs154001(T;T)

Reference

GRCh38 38.1/141

Chromosome

5

Position

128349443

Gene

FBN2

is a	snp
is	mentioned by
dbSNP	rs154001
dbSNP (classic)	rs154001
ClinGen	rs154001
ebi	rs154001
HLI	rs154001
Exac	rs154001
Gnomad	rs154001
Varsome	rs154001
LitVar	rs154001
Map	rs154001
PheGenI	rs154001
Biobank	rs154001
1000 genomes	rs154001
hgdp	rs154001
ensembl	rs154001
geneview	rs154001
scholar	rs154001
google	rs154001
pharmgkb	rs154001
gwascentral	rs154001
openSNP	rs154001
23andMe	rs154001
SNPshot	rs154001
SNPdbe	rs154001
MSV3d	rs154001
GWAS Ctlg	rs154001

GMAF

0.27

Max Magnitude

0

?	(C;C) (C;T) (T;T)	28

OMIM	612570
Desc
Variant	0003
Related	also

ClinVar
Risk	rs154001(T;T)
Alt	rs154001(T;T)
Reference	Rs154001(C;C)
Significance	Non-pathogenic
Disease	not specified Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly
Variation	info
Gene	FBN2
CLNDBN	not specified Thoracic aortic aneurysm and aortic dissection Congenital contractural arachnodactyly
Reversed	0
HGVS	NC_000005.9:g.127685135C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000117020.4, RCV000244792.1, RCV000342582.1,