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rs863223754

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;C) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
Make rs863223754(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position67184845
GeneSMAD3
is asnp
is mentioned by
dbSNPrs863223754
dbSNP (classic)rs863223754
ClinGenrs863223754
ebirs863223754
HLIrs863223754
Exacrs863223754
Gnomadrs863223754
Varsomers863223754
LitVarrs863223754
Maprs863223754
PheGenIrs863223754
Biobankrs863223754
1000 genomesrs863223754
hgdprs863223754
ensemblrs863223754
geneviewrs863223754
scholarrs863223754
googlers863223754
pharmgkbrs863223754
gwascentralrs863223754
openSNPrs863223754
23andMers863223754
SNPshotrs863223754
SNPdbers863223754
MSV3drs863223754
GWAS Ctlgrs863223754
Max Magnitude6.5
ClinVar
Risk rs863223754(C;C)
Alt rs863223754(C;C)
Reference Rs863223754(-;-)
Significance Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene SMAD3
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 0
HGVS NC_000015.9:g.67477183dupC
CLNSRC
CLNACC RCV000465646.1,