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rs397516683

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs397516683(C;T)
Make rs397516683(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome10
Position88941820
GeneACTA2
is asnp
is mentioned by
dbSNPrs397516683
dbSNP (classic)rs397516683
ClinGenrs397516683
ebirs397516683
HLIrs397516683
Exacrs397516683
Gnomadrs397516683
Varsomers397516683
LitVarrs397516683
Maprs397516683
PheGenIrs397516683
Biobankrs397516683
1000 genomesrs397516683
hgdprs397516683
ensemblrs397516683
geneviewrs397516683
scholarrs397516683
googlers397516683
pharmgkbrs397516683
gwascentralrs397516683
openSNPrs397516683
23andMers397516683
SNPshotrs397516683
SNPdbers397516683
MSV3drs397516683
GWAS Ctlgrs397516683
Max Magnitude0
ClinVar
Risk rs397516683(T;T)
Alt rs397516683(T;T)
Reference Rs397516683(C;C)
Significance Probable-Pathogenic
Disease not specified Thoracic aortic aneurysm and aortic dissection not provided
Variation info
Gene ACTA2 STAMBPL1
CLNDBN not specified Thoracic aortic aneurysm and aortic dissection not provided
Reversed 1
HGVS NC_000010.10:g.90701577G>A
CLNSRC
CLNACC RCV000037195.2, RCV000157091.3, RCV000211885.1,