rs121434526

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 rs121434526(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

88941794

Gene

ACTA2

is a	snp
is	mentioned by
dbSNP	rs121434526
dbSNP (classic)	rs121434526
ClinGen	rs121434526
ebi	rs121434526
HLI	rs121434526
Exac	rs121434526
Gnomad	rs121434526
Varsome	rs121434526
LitVar	rs121434526
Map	rs121434526
PheGenI	rs121434526
Biobank	rs121434526
1000 genomes	rs121434526
hgdp	rs121434526
ensembl	rs121434526
geneview	rs121434526
scholar	rs121434526
google	rs121434526
pharmgkb	rs121434526
gwascentral	rs121434526
openSNP	rs121434526
23andMe	rs121434526
SNPshot	rs121434526
SNPdbe	rs121434526
MSV3d	rs121434526
GWAS Ctlg	rs121434526

Max Magnitude

6.5

OMIM	102620
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121434526(T;T)
Alt	rs121434526(T;T)
Reference	Rs121434526(C;C)
Significance	Pathogenic
Disease	Aortic aneurysm Thoracic aortic aneurysm and aortic dissection
Variation	info
Gene	ACTA2 STAMBPL1
CLNDBN	Aortic aneurysm, familial thoracic 6 Thoracic aortic aneurysm and aortic dissection
Reversed	1
HGVS	NC_000010.10:g.90701551G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019938.27, RCV000246692.1,