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rs794728315

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
(D;D) 0 common genotype
Make rs794728315(-;T)
Make rs794728315(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48441718
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728315
dbSNP (classic)rs794728315
ClinGenrs794728315
ebirs794728315
HLIrs794728315
Exacrs794728315
Gnomadrs794728315
Varsomers794728315
LitVarrs794728315
Maprs794728315
PheGenIrs794728315
Biobankrs794728315
1000 genomesrs794728315
hgdprs794728315
ensemblrs794728315
geneviewrs794728315
scholarrs794728315
googlers794728315
pharmgkbrs794728315
gwascentralrs794728315
openSNPrs794728315
23andMers794728315
SNPshotrs794728315
SNPdbers794728315
MSV3drs794728315
GWAS Ctlgrs794728315
Max Magnitude0
ClinVar
Risk rs794728315(T;T)
Alt rs794728315(T;T)
Reference Rs794728315(-;-)
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.48733916dupA
CLNSRC
CLNACC RCV000181670.1,