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

rs794728173

From SNPedia

Merged intors113422242
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs794728173(C;T)
Make rs794728173(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48510065
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728173
dbSNP (classic)rs794728173
ClinGenrs794728173
ebirs794728173
HLIrs794728173
Exacrs794728173
Gnomadrs794728173
Varsomers794728173
LitVarrs794728173
Maprs794728173
PheGenIrs794728173
Biobankrs794728173
1000 genomesrs794728173
hgdprs794728173
ensemblrs794728173
geneviewrs794728173
scholarrs794728173
googlers794728173
pharmgkbrs794728173
gwascentralrs794728173
openSNPrs794728173
23andMers794728173
SNPshotrs794728173
SNPdbers794728173
MSV3drs794728173
GWAS Ctlgrs794728173
StatusMerged into rs113422242
Max Magnitude0
ClinVar
Risk rs794728173(T;T)
Alt rs794728173(T;T)
Reference Rs794728173(C;C)
Significance Pathogenic
Disease not provided Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN not provided Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48802262G>A
CLNSRC
CLNACC RCV000181438.2, RCV000253224.1,