rs387906592

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 rs387906592(A;A)

Reference

GRCh38 38.1/141

Chromosome

10

Position

88941309

Gene

ACTA2

is a	snp
is	mentioned by
dbSNP	rs387906592
dbSNP (classic)	rs387906592
ClinGen	rs387906592
ebi	rs387906592
HLI	rs387906592
Exac	rs387906592
Gnomad	rs387906592
Varsome	rs387906592
LitVar	rs387906592
Map	rs387906592
PheGenI	rs387906592
Biobank	rs387906592
1000 genomes	rs387906592
hgdp	rs387906592
ensembl	rs387906592
geneview	rs387906592
scholar	rs387906592
google	rs387906592
pharmgkb	rs387906592
gwascentral	rs387906592
openSNP	rs387906592
23andMe	rs387906592
SNPshot	rs387906592
SNPdbe	rs387906592
MSV3d	rs387906592
GWAS Ctlg	rs387906592

Max Magnitude

6.5

ClinVar
Risk	rs387906592(A;A)
Alt	rs387906592(A;A)
Reference	Rs387906592(G;G)
Significance	Pathogenic
Disease	Multisystemic smooth muscle dysfunction syndrome Moyamoya disease 5 Thoracic aortic aneurysm and aortic dissection not provided Aortic aneurysm Connective tissue disorder alterations of great arteries and veins
Variation	info
Gene	ACTA2 STAMBPL1
CLNDBN	Multisystemic smooth muscle dysfunction syndrome Moyamoya disease 5 Thoracic aortic aneurysm and aortic dissection not provided Aortic aneurysm, familial thoracic 6 Connective tissue disorder alterations of great arteries and veins
Reversed	1
HGVS	NC_000010.10:g.90701066C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000022437.27, RCV000022438.27, RCV000181023.3, RCV000211886.2, RCV000228180.1, RCV000415107.1,