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rs794728310

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794728310(-;G)
Make rs794728310(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48470663
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728310
dbSNP (old)rs794728310
ClinGenrs794728310
ebirs794728310
HLIrs794728310
Exacrs794728310
Gnomadrs794728310
Varsomers794728310
Maprs794728310
PheGenIrs794728310
Biobankrs794728310
1000 genomesrs794728310
hgdprs794728310
ensemblrs794728310
gopubmedrs794728310
geneviewrs794728310
scholarrs794728310
googlers794728310
pharmgkbrs794728310
gwascentralrs794728310
openSNPrs794728310
23andMers794728310
23andMe allrs794728310
SNP Nexus

SNPshotrs794728310
SNPdbers794728310
MSV3drs794728310
GWAS Ctlgrs794728310
Max Magnitude0
ClinVar
Risk rs794728310(G;G)
Alt rs794728310(G;G)
Reference Rs794728310(-;-)
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.48762861dupC
CLNSRC
CLNACC RCV000181665.1,