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rs121434527

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434527(A;A)
Make rs121434527(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position88939542
GeneACTA2, EIF4E2
is asnp
is mentioned by
dbSNPrs121434527
ebirs121434527
HLIrs121434527
Exacrs121434527
Varsomers121434527
Maprs121434527
PheGenIrs121434527
hapmaprs121434527
1000 genomesrs121434527
hgdprs121434527
ensemblrs121434527
gopubmedrs121434527
geneviewrs121434527
scholarrs121434527
googlers121434527
pharmgkbrs121434527
gwascentralrs121434527
openSNPrs121434527
23andMers121434527
23andMe allrs121434527
SNP Nexus

SNPshotrs121434527
SNPdbers121434527
MSV3drs121434527
GWAS Ctlgrs121434527
Max Magnitude0
OMIM102620
Desc
Variant0002
Relatedalso
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
CLNACC RCV000019939.27, RCV000022435.27, RCV000181027.1,