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rs753486471

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
(C;C) 0 common in clinvar


Make rs753486471(A;A)
ReferenceGRCh38.p7 38.3/150
Chromosome15
Position67181379
GeneSMAD3
is asnp
is mentioned by
dbSNPrs753486471
dbSNP (classic)rs753486471
ClinGenrs753486471
ebirs753486471
HLIrs753486471
Exacrs753486471
Gnomadrs753486471
Varsomers753486471
LitVarrs753486471
Maprs753486471
PheGenIrs753486471
Biobankrs753486471
1000 genomesrs753486471
hgdprs753486471
ensemblrs753486471
geneviewrs753486471
scholarrs753486471
googlers753486471
pharmgkbrs753486471
gwascentralrs753486471
openSNPrs753486471
23andMers753486471
SNPshotrs753486471
SNPdbers753486471
MSV3drs753486471
GWAS Ctlgrs753486471
Max Magnitude6.5
ClinVar
Risk rs753486471(A;A) rs753486471(T;T)
Alt rs753486471(A;A) rs753486471(T;T)
Reference Rs753486471(C;C)
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.67473717C>A
CLNSRC
CLNACC RCV000468525.1,