rs112645512

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 rs112645512(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

15

Position

48516225

Gene

FBN1

is a	snp
is	mentioned by
dbSNP	rs112645512
dbSNP (classic)	rs112645512
ClinGen	rs112645512
ebi	rs112645512
HLI	rs112645512
Exac	rs112645512
Gnomad	rs112645512
Varsome	rs112645512
LitVar	rs112645512
Map	rs112645512
PheGenI	rs112645512
Biobank	rs112645512
1000 genomes	rs112645512
hgdp	rs112645512
ensembl	rs112645512
geneview	rs112645512
scholar	rs112645512
google	rs112645512
pharmgkb	rs112645512
gwascentral	rs112645512
openSNP	rs112645512
23andMe	rs112645512
SNPshot	rs112645512
SNPdbe	rs112645512
MSV3d	rs112645512
GWAS Ctlg	rs112645512

Max Magnitude

6.5

ClinVar
Risk	rs112645512(T;T)
Alt	rs112645512(T;T)
Reference	Rs112645512(C;C)
Significance	Pathogenic
Disease	Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided
Variation	info
Gene	FBN1
CLNDBN	Marfan syndrome Thoracic aortic aneurysm and aortic dissection not provided
Reversed	1
HGVS	NC_000015.9:g.48808422G>A
CLNSRC
CLNACC	RCV000157224.1, RCV000253662.1, RCV000312925.1,