rs121434527

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 rs121434527(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

88939542

Gene	ACTA2, ACTA2-AS1

is a	snp
is	mentioned by
dbSNP	rs121434527
dbSNP (classic)	rs121434527
ClinGen	rs121434527
ebi	rs121434527
HLI	rs121434527
Exac	rs121434527
Gnomad	rs121434527
Varsome	rs121434527
LitVar	rs121434527
Map	rs121434527
PheGenI	rs121434527
Biobank	rs121434527
1000 genomes	rs121434527
hgdp	rs121434527
ensembl	rs121434527
geneview	rs121434527
scholar	rs121434527
google	rs121434527
pharmgkb	rs121434527
gwascentral	rs121434527
openSNP	rs121434527
23andMe	rs121434527
SNPshot	rs121434527
SNPdbe	rs121434527
MSV3d	rs121434527
GWAS Ctlg	rs121434527

Max Magnitude

6.5

OMIM	102620
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121434527(A;A)
Alt	rs121434527(A;A)
Reference	Rs121434527(G;G)
Significance	Pathogenic
Disease	Aortic aneurysm Moyamoya disease 5 not provided
Variation	info
Gene	ACTA2 STAMBPL1 ACTA2-AS1
CLNDBN	Aortic aneurysm, familial thoracic 6 Moyamoya disease 5 not provided
Reversed	1
HGVS	NC_000010.10:g.90699299C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019939.27, RCV000022435.27, RCV000181027.2,