Have questions? Visit https://www.reddit.com/r/SNPedia

rs794728333

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs794728333(C;C)
Make rs794728333(C;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48446768
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728333
dbSNP (classic)rs794728333
ClinGenrs794728333
ebirs794728333
HLIrs794728333
Exacrs794728333
Gnomadrs794728333
Varsomers794728333
LitVarrs794728333
Maprs794728333
PheGenIrs794728333
Biobankrs794728333
1000 genomesrs794728333
hgdprs794728333
ensemblrs794728333
geneviewrs794728333
scholarrs794728333
googlers794728333
pharmgkbrs794728333
gwascentralrs794728333
openSNPrs794728333
23andMers794728333
SNPshotrs794728333
SNPdbers794728333
MSV3drs794728333
GWAS Ctlgrs794728333
Max Magnitude0
ClinVar
Risk rs794728333(C;C)
Alt rs794728333(C;C)
Reference Rs794728333(T;T)
Significance Probable-Pathogenic
Disease not specified Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN not specified Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48738965A>G
CLNSRC
CLNACC RCV000181696.2, RCV000253306.1,