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rs794728293

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GGC;GGC) 0 common in clinvar
Make rs794728293(GGC;TGT)
Make rs794728293(TGT;TGT)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48537645
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728293
dbSNP (old)rs794728293
ClinGenrs794728293
ebirs794728293
HLIrs794728293
Exacrs794728293
Varsomers794728293
Maprs794728293
PheGenIrs794728293
Biobankrs794728293
1000 genomesrs794728293
hgdprs794728293
ensemblrs794728293
gopubmedrs794728293
geneviewrs794728293
scholarrs794728293
googlers794728293
pharmgkbrs794728293
gwascentralrs794728293
openSNPrs794728293
23andMers794728293
23andMe allrs794728293
SNP Nexus

SNPshotrs794728293
SNPdbers794728293
MSV3drs794728293
GWAS Ctlgrs794728293
Max Magnitude0
ClinVar
Risk rs794728293(TGT;TGT)
Alt rs794728293(TGT;TGT)
Reference Rs794728293(GGC;GGC)
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.48829842_48829844delGCCinsACA
CLNSRC
CLNACC RCV000181648.1,