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rs794728318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794728318(-;ACCG)
Make rs794728318(ACCG;ACCG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48432879
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728318
dbSNP (old)rs794728318
ClinGenrs794728318
ebirs794728318
HLIrs794728318
Exacrs794728318
Varsomers794728318
Maprs794728318
PheGenIrs794728318
Biobankrs794728318
1000 genomesrs794728318
hgdprs794728318
ensemblrs794728318
gopubmedrs794728318
geneviewrs794728318
scholarrs794728318
googlers794728318
pharmgkbrs794728318
gwascentralrs794728318
openSNPrs794728318
23andMers794728318
23andMe allrs794728318
SNP Nexus

SNPshotrs794728318
SNPdbers794728318
MSV3drs794728318
GWAS Ctlgrs794728318
Max Magnitude0
ClinVar
Risk rs794728318(ACCG;ACCG)
Alt rs794728318(ACCG;ACCG)
Reference Rs794728318(-;-)
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.48725077_48725080dupCGGT
CLNSRC
CLNACC RCV000181673.1,