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rs878853676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 5.5 Marfan syndrome mutation
(C;G) 6.5 Familial thoracic aortic aneurysms and dissections (FTAAD)
(G;G) 0 common in clinvar


Make rs878853676(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48505069
GeneFBN1
is asnp
is mentioned by
dbSNPrs878853676
dbSNP (classic)rs878853676
ClinGenrs878853676
ebirs878853676
HLIrs878853676
Exacrs878853676
Gnomadrs878853676
Varsomers878853676
LitVarrs878853676
Maprs878853676
PheGenIrs878853676
Biobankrs878853676
1000 genomesrs878853676
hgdprs878853676
ensemblrs878853676
geneviewrs878853676
scholarrs878853676
googlers878853676
pharmgkbrs878853676
gwascentralrs878853676
openSNPrs878853676
23andMers878853676
SNPshotrs878853676
SNPdbers878853676
MSV3drs878853676
GWAS Ctlgrs878853676
Max Magnitude6.5
ClinVar
Risk rs878853676(A;A)
Alt rs878853676(A;A)
Reference Rs878853676(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48797266C>T
CLNSRC
CLNACC RCV000229819.1,