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rs794728199

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
Make rs794728199(A;A)
Make rs794728199(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48489980
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728199
dbSNP (classic)rs794728199
ClinGenrs794728199
ebirs794728199
HLIrs794728199
Exacrs794728199
Gnomadrs794728199
Varsomers794728199
LitVarrs794728199
Maprs794728199
PheGenIrs794728199
Biobankrs794728199
1000 genomesrs794728199
hgdprs794728199
ensemblrs794728199
geneviewrs794728199
scholarrs794728199
googlers794728199
pharmgkbrs794728199
gwascentralrs794728199
openSNPrs794728199
23andMers794728199
SNPshotrs794728199
SNPdbers794728199
MSV3drs794728199
GWAS Ctlgrs794728199
Max Magnitude6.5
ClinVar
Risk rs794728199(A;A)
Alt rs794728199(A;A)
Reference Rs794728199(G;G)
Significance Probable-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.48782177C>T
CLNSRC
CLNACC RCV000181473.3, RCV000249898.1,