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

rs794728198

From SNPedia

Merged intors112911555
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794728198(A;A)
Make rs794728198(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position48490072
GeneFBN1
is asnp
is mentioned by
dbSNPrs794728198
dbSNP (classic)rs794728198
ClinGenrs794728198
ebirs794728198
HLIrs794728198
Exacrs794728198
Gnomadrs794728198
Varsomers794728198
LitVarrs794728198
Maprs794728198
PheGenIrs794728198
Biobankrs794728198
1000 genomesrs794728198
hgdprs794728198
ensemblrs794728198
geneviewrs794728198
scholarrs794728198
googlers794728198
pharmgkbrs794728198
gwascentralrs794728198
openSNPrs794728198
23andMers794728198
SNPshotrs794728198
SNPdbers794728198
MSV3drs794728198
GWAS Ctlgrs794728198
StatusMerged into rs112911555
Max Magnitude0
ClinVar
Risk rs794728198(A;A)
Alt rs794728198(A;A)
Reference Rs794728198(G;G)
Significance Pathogenic
Disease not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Variation info
Gene FBN1
CLNDBN not provided Marfan syndrome Thoracic aortic aneurysm and aortic dissection
Reversed 1
HGVS NC_000015.9:g.48782269C>T
CLNSRC
CLNACC RCV000181469.1, RCV000208533.1, RCV000253911.1,