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rs794728262

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728262(C;T)
Make rs794728262(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48427768
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728262
dbSNP (classic)rs794728262
ClinGenrs794728262
ebirs794728262
HLIrs794728262
Exacrs794728262
Gnomadrs794728262
Varsomers794728262
LitVarrs794728262
Maprs794728262
PheGenIrs794728262
Biobankrs794728262
1000 genomesrs794728262
hgdprs794728262
ensemblrs794728262
geneviewrs794728262
scholarrs794728262
googlers794728262
pharmgkbrs794728262
gwascentralrs794728262
openSNPrs794728262
23andMers794728262
SNPshotrs794728262
SNPdbers794728262
MSV3drs794728262
GWAS Ctlgrs794728262
Max Magnitude0
ClinVar
Risk rs794728262(T;T)
Alt rs794728262(T;T)
Reference Rs794728262(C;C)
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.48719965G>A
CLNSRC
CLNACC RCV000181586.1,