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rs794728268

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728268(A;A)
Make rs794728268(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48427572
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728268
dbSNP (classic)rs794728268
ClinGenrs794728268
ebirs794728268
HLIrs794728268
Exacrs794728268
Gnomadrs794728268
Varsomers794728268
LitVarrs794728268
Maprs794728268
PheGenIrs794728268
Biobankrs794728268
1000 genomesrs794728268
hgdprs794728268
ensemblrs794728268
geneviewrs794728268
scholarrs794728268
googlers794728268
pharmgkbrs794728268
gwascentralrs794728268
openSNPrs794728268
23andMers794728268
SNPshotrs794728268
SNPdbers794728268
MSV3drs794728268
GWAS Ctlgrs794728268
Max Magnitude0
ClinVar
Risk rs794728268(A;A)
Alt rs794728268(A;A)
Reference Rs794728268(G;G)
Significance Probable-Pathogenic
Disease Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48719769C>T
CLNSRC
CLNACC RCV000181595.1,