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rs794728306

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs794728306(-;CCTG)
Make rs794728306(CCTG;CCTG)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48487347
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728306
ClinGenrs794728306
ebirs794728306
HLIrs794728306
Exacrs794728306
Varsomers794728306
Maprs794728306
PheGenIrs794728306
hapmaprs794728306
1000 genomesrs794728306
hgdprs794728306
ensemblrs794728306
gopubmedrs794728306
geneviewrs794728306
scholarrs794728306
googlers794728306
pharmgkbrs794728306
gwascentralrs794728306
openSNPrs794728306
23andMers794728306
23andMe allrs794728306
SNP Nexus

SNPshotrs794728306
SNPdbers794728306
MSV3drs794728306
GWAS Ctlgrs794728306
Max Magnitude0
ClinVar
Risk rs794728306(CCTG;CCTG)
Alt rs794728306(CCTG;CCTG)
Reference Rs794728306(;)
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.48779545_48779548dupCAGG
CLNSRC
CLNACC RCV000181661.1,