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rs139456571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs139456571(A;A)
Make rs139456571(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome21
Position43065269
GeneCBS
is asnp
is mentioned by
dbSNPrs139456571
dbSNP (classic)rs139456571
ClinGenrs139456571
ebirs139456571
HLIrs139456571
Exacrs139456571
Gnomadrs139456571
Varsomers139456571
LitVarrs139456571
Maprs139456571
PheGenIrs139456571
Biobankrs139456571
1000 genomesrs139456571
hgdprs139456571
ensemblrs139456571
geneviewrs139456571
scholarrs139456571
googlers139456571
pharmgkbrs139456571
gwascentralrs139456571
openSNPrs139456571
23andMers139456571
SNPshotrs139456571
SNPdbers139456571
MSV3drs139456571
GWAS Ctlgrs139456571
Max Magnitude0
ClinVar
Risk rs139456571(A;A)
Alt rs139456571(A;A)
Reference Rs139456571(G;G)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection not specified
Variation info
Gene CBSL CBS
CLNDBN Thoracic aortic aneurysm and aortic dissection not specified
Reversed 0
HGVS NC_000021.8:g.44485379G>A
CLNSRC
CLNACC RCV000243693.1, RCV000265141.2,