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rs794728313

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794728313(-;C)
Make rs794728313(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48444620
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728313
dbSNP (classic)rs794728313
ClinGenrs794728313
ebirs794728313
HLIrs794728313
Exacrs794728313
Gnomadrs794728313
Varsomers794728313
LitVarrs794728313
Maprs794728313
PheGenIrs794728313
Biobankrs794728313
1000 genomesrs794728313
hgdprs794728313
ensemblrs794728313
geneviewrs794728313
scholarrs794728313
googlers794728313
pharmgkbrs794728313
gwascentralrs794728313
openSNPrs794728313
23andMers794728313
SNPshotrs794728313
SNPdbers794728313
MSV3drs794728313
GWAS Ctlgrs794728313
Max Magnitude0
ClinVar
Risk rs794728313(C;C)
Alt rs794728313(C;C)
Reference Rs794728313(-;-)
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.48736818dupG
CLNSRC
CLNACC RCV000181668.1,