rs137854476

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	6.5	Familial thoracic aortic aneurysms and dissections (FTAAD)

Make rs137854476(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48513552

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854476
dbSNP (classic)	rs137854476
ClinGen	rs137854476
ebi	rs137854476
HLI	rs137854476
Exac	rs137854476
Gnomad	rs137854476
Varsome	rs137854476
LitVar	rs137854476
Map	rs137854476
PheGenI	rs137854476
Biobank	rs137854476
1000 genomes	rs137854476
hgdp	rs137854476
ensembl	rs137854476
geneview	rs137854476
scholar	rs137854476
google	rs137854476
pharmgkb	rs137854476
gwascentral	rs137854476
openSNP	rs137854476
23andMe	rs137854476
SNPshot	rs137854476
SNPdbe	rs137854476
MSV3d	rs137854476
GWAS Ctlg	rs137854476

Max Magnitude

6.5

OMIM	134797
Desc
Variant	0033
Related	also

ClinVar
Risk	rs137854476(T;T)
Alt	rs137854476(T;T)
Reference	Rs137854476(C;C)
Significance	Pathogenic
Disease	Marfan syndrome not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not provided
Reversed	1
HGVS	NC_000015.9:g.48805749G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017915.24, RCV000181685.3,