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rs794728164

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728164(C;G)
Make rs794728164(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48520745
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728164
dbSNP (classic)rs794728164
ClinGenrs794728164
ebirs794728164
HLIrs794728164
Exacrs794728164
Gnomadrs794728164
Varsomers794728164
LitVarrs794728164
Maprs794728164
PheGenIrs794728164
Biobankrs794728164
1000 genomesrs794728164
hgdprs794728164
ensemblrs794728164
geneviewrs794728164
scholarrs794728164
googlers794728164
pharmgkbrs794728164
gwascentralrs794728164
openSNPrs794728164
23andMers794728164
SNPshotrs794728164
SNPdbers794728164
MSV3drs794728164
GWAS Ctlgrs794728164
Max Magnitude0
ClinVar
Risk rs794728164(G;G)
Alt rs794728164(G;G)
Reference Rs794728164(C;C)
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.48812942G>C
CLNSRC
CLNACC RCV000181423.1,