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rs794728241

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
(G;G) 0 common in clinvar
Make rs794728241(G;T)
Make rs794728241(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48445468
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728241
dbSNP (classic)rs794728241
ClinGenrs794728241
ebirs794728241
HLIrs794728241
Exacrs794728241
Gnomadrs794728241
Varsomers794728241
LitVarrs794728241
Maprs794728241
PheGenIrs794728241
Biobankrs794728241
1000 genomesrs794728241
hgdprs794728241
ensemblrs794728241
geneviewrs794728241
scholarrs794728241
googlers794728241
pharmgkbrs794728241
gwascentralrs794728241
openSNPrs794728241
23andMers794728241
SNPshotrs794728241
SNPdbers794728241
MSV3drs794728241
GWAS Ctlgrs794728241
Max Magnitude6.5
ClinVar
Risk rs794728241(C;C) rs794728241(T;T)
Alt rs794728241(C;C) rs794728241(T;T)
Reference Rs794728241(G;G)
Significance Pathogenic
Disease not provided Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN not provided Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48737665C>A; NC_000015.9:g.48737665C>G
CLNSRC
CLNACC RCV000181553.1, RCV000250655.1,