rs398122833

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 rs398122833(G;T)

Make rs398122833(T;T)

Reference

GRCh38 38.1/141

Chromosome

15

Position

48412568

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs398122833
dbSNP (classic)	rs398122833
ClinGen	rs398122833
ebi	rs398122833
HLI	rs398122833
Exac	rs398122833
Gnomad	rs398122833
Varsome	rs398122833
LitVar	rs398122833
Map	rs398122833
PheGenI	rs398122833
Biobank	rs398122833
1000 genomes	rs398122833
hgdp	rs398122833
ensembl	rs398122833
geneview	rs398122833
scholar	rs398122833
google	rs398122833
pharmgkb	rs398122833
gwascentral	rs398122833
openSNP	rs398122833
23andMe	rs398122833
SNPshot	rs398122833
SNPdbe	rs398122833
MSV3d	rs398122833
GWAS Ctlg	rs398122833

Max Magnitude

6.5

ClinVar
Risk	rs398122833(A;A) rs398122833(T;T)
Alt	rs398122833(A;A) rs398122833(T;T)
Reference	Rs398122833(G;G)
Significance	Pathogenic
Disease	Marfan lipodystrophy syndrome
Variation	info
Gene	FBN1
CLNDBN	Marfan lipodystrophy syndrome
Reversed	1
HGVS	NC_000015.9:g.48704765C>A; NC_000015.9:g.48704765C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000033243.28, RCV000210934.1,