rs113422242

Orientation

minus

Stabilized

minus

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

Make rs113422242(C;T)

Make rs113422242(T;T)

Reference

GRCh38.p2 38.2/147

Chromosome

15

Position

48510065

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs113422242
dbSNP (classic)	rs113422242
ClinGen	rs113422242
ebi	rs113422242
HLI	rs113422242
Exac	rs113422242
Gnomad	rs113422242
Varsome	rs113422242
LitVar	rs113422242
Map	rs113422242
PheGenI	rs113422242
Biobank	rs113422242
1000 genomes	rs113422242
hgdp	rs113422242
ensembl	rs113422242
geneview	rs113422242
scholar	rs113422242
google	rs113422242
pharmgkb	rs113422242
gwascentral	rs113422242
openSNP	rs113422242
23andMe	rs113422242
SNPshot	rs113422242
SNPdbe	rs113422242
MSV3d	rs113422242
GWAS Ctlg	rs113422242

Merged from

Rs794728173

Max Magnitude

0

ClinVar
Risk	rs113422242(T;T)
Alt	rs113422242(T;T)
Reference	Rs113422242(C;C)
Significance	Pathogenic
Disease	not provided Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	FBN1
CLNDBN	not provided Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000015.9:g.48802262G>A
CLNSRC
CLNACC	RCV000181438.3, RCV000253224.1,