rs137854478

Orientation

minus

Stabilized

minus

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

Make rs137854478(A;A)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48488233

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs137854478
dbSNP (classic)	rs137854478
ClinGen	rs137854478
ebi	rs137854478
HLI	rs137854478
Exac	rs137854478
Gnomad	rs137854478
Varsome	rs137854478
LitVar	rs137854478
Map	rs137854478
PheGenI	rs137854478
Biobank	rs137854478
1000 genomes	rs137854478
hgdp	rs137854478
ensembl	rs137854478
geneview	rs137854478
scholar	rs137854478
google	rs137854478
pharmgkb	rs137854478
gwascentral	rs137854478
openSNP	rs137854478
23andMe	rs137854478
SNPshot	rs137854478
SNPdbe	rs137854478
MSV3d	rs137854478
GWAS Ctlg	rs137854478

Max Magnitude

6.5

OMIM	134797
Desc
Variant	0038
Related	also

ClinVar
Risk	rs137854478(A;A)
Alt	rs137854478(A;A)
Reference	Rs137854478(G;G)
Significance	Pathogenic
Disease	Marfan syndrome not provided Marfan syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome, neonatal not provided Marfan syndrome
Reversed	1
HGVS	NC_000015.9:g.48780430C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017920.27, RCV000181482.2, RCV000227621.1,