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rs397516685

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs397516685(A;A)
Make rs397516685(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position88939680
GeneACTA2, ACTA2-AS1
is asnp
is mentioned by
dbSNPrs397516685
dbSNP (classic)rs397516685
ClinGenrs397516685
ebirs397516685
HLIrs397516685
Exacrs397516685
Gnomadrs397516685
Varsomers397516685
LitVarrs397516685
Maprs397516685
PheGenIrs397516685
Biobankrs397516685
1000 genomesrs397516685
hgdprs397516685
ensemblrs397516685
geneviewrs397516685
scholarrs397516685
googlers397516685
pharmgkbrs397516685
gwascentralrs397516685
openSNPrs397516685
23andMers397516685
SNPshotrs397516685
SNPdbers397516685
MSV3drs397516685
GWAS Ctlgrs397516685
Max Magnitude0
ClinVar
Risk rs397516685(A;A)
Alt rs397516685(A;A)
Reference Rs397516685(G;G)
Significance Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection not provided
Variation info
Gene ACTA2 STAMBPL1 ACTA2-AS1
CLNDBN Thoracic aortic aneurysm and aortic dissection not provided
Reversed 1
HGVS NC_000010.10:g.90699437C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000181024.2, RCV000211887.1,