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rs794728258

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728258(G;T)
Make rs794728258(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48430670
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728258
dbSNP (classic)rs794728258
ClinGenrs794728258
ebirs794728258
HLIrs794728258
Exacrs794728258
Gnomadrs794728258
Varsomers794728258
LitVarrs794728258
Maprs794728258
PheGenIrs794728258
Biobankrs794728258
1000 genomesrs794728258
hgdprs794728258
ensemblrs794728258
geneviewrs794728258
scholarrs794728258
googlers794728258
pharmgkbrs794728258
gwascentralrs794728258
openSNPrs794728258
23andMers794728258
SNPshotrs794728258
SNPdbers794728258
MSV3drs794728258
GWAS Ctlgrs794728258
Max Magnitude0
ClinVar
Risk rs794728258(T;T)
Alt rs794728258(T;T)
Reference Rs794728258(G;G)
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.48722867C>A
CLNSRC
CLNACC RCV000181581.1,