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rs121434528

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434528(C;T)
Make rs121434528(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position88939543
GeneACTA2, EIF4E2
is asnp
is mentioned by
dbSNPrs121434528
ebirs121434528
HLIrs121434528
Exacrs121434528
Varsomers121434528
Maprs121434528
PheGenIrs121434528
hapmaprs121434528
1000 genomesrs121434528
hgdprs121434528
ensemblrs121434528
gopubmedrs121434528
geneviewrs121434528
scholarrs121434528
googlers121434528
pharmgkbrs121434528
gwascentralrs121434528
openSNPrs121434528
23andMers121434528
23andMe allrs121434528
SNP Nexus

SNPshotrs121434528
SNPdbers121434528
MSV3drs121434528
GWAS Ctlgrs121434528
Max Magnitude0
OMIM102620
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434528(T;T)
Alt rs121434528(T;T)
Reference rs121434528(C;C)
Significance Pathogenic
Disease Aortic aneurysm Moyamoya disease 5
Variation info
Gene ACTA2 STAMBPL1 ACTA2-AS1
CLNDBN Aortic aneurysm, familial thoracic 6 Moyamoya disease 5
Reversed 1
HGVS NC_000010.10:g.90699300G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019940.27, RCV000022436.27,