rs141133182

Orientation

plus

Stabilized

plus

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

Make rs141133182(C;T)

Make rs141133182(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48415735

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs141133182
dbSNP (classic)	rs141133182
ClinGen	rs141133182
ebi	rs141133182
HLI	rs141133182
Exac	rs141133182
Gnomad	rs141133182
Varsome	rs141133182
LitVar	rs141133182
Map	rs141133182
PheGenI	rs141133182
Biobank	rs141133182
1000 genomes	rs141133182
hgdp	rs141133182
ensembl	rs141133182
geneview	rs141133182
scholar	rs141133182
google	rs141133182
pharmgkb	rs141133182
gwascentral	rs141133182
openSNP	rs141133182
23andMe	rs141133182
SNPshot	rs141133182
SNPdbe	rs141133182
MSV3d	rs141133182
GWAS Ctlg	rs141133182

Max Magnitude

5.5

ClinVar
Risk	rs141133182(A;A) rs141133182(T;T)
Alt	rs141133182(A;A) rs141133182(T;T)
Reference	Rs141133182(C;C)
Significance	Pathogenic
Disease	Marfan syndrome not specified Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome not specified Thoracic aortic aneurysm and aortic dissection
Reversed	0
HGVS	NC_000015.9:g.48707932C>A; NC_000015.9:g.48707932C>T
CLNSRC	ClinVar University of Washington
CLNACC	RCV000470278.1, RCV000035279.3, RCV000154182.2, RCV000243980.1, RCV000464816.1,