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rs794728324

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794728324(-;-)
Make rs794728324(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48613032
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728324
dbSNP (classic)rs794728324
ClinGenrs794728324
ebirs794728324
HLIrs794728324
Exacrs794728324
Gnomadrs794728324
Varsomers794728324
LitVarrs794728324
Maprs794728324
PheGenIrs794728324
Biobankrs794728324
1000 genomesrs794728324
hgdprs794728324
ensemblrs794728324
geneviewrs794728324
scholarrs794728324
googlers794728324
pharmgkbrs794728324
gwascentralrs794728324
openSNPrs794728324
23andMers794728324
SNPshotrs794728324
SNPdbers794728324
MSV3drs794728324
GWAS Ctlgrs794728324
Max Magnitude0
ClinVar
Risk rs794728324(-;-)
Alt rs794728324(-;-)
Reference Rs794728324(T;T)
Significance 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.48905229delA
CLNSRC
CLNACC RCV000181680.1,