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rs869025420

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TG;TG) 0 common in clinvar
Make rs869025420(-;-)
Make rs869025420(-;TG)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48508674
GeneFBN1
is asnp
is mentioned by
dbSNPrs869025420
dbSNP (classic)rs869025420
ClinGenrs869025420
ebirs869025420
HLIrs869025420
Exacrs869025420
Gnomadrs869025420
Varsomers869025420
LitVarrs869025420
Maprs869025420
PheGenIrs869025420
Biobankrs869025420
1000 genomesrs869025420
hgdprs869025420
ensemblrs869025420
geneviewrs869025420
scholarrs869025420
googlers869025420
pharmgkbrs869025420
gwascentralrs869025420
openSNPrs869025420
23andMers869025420
SNPshotrs869025420
SNPdbers869025420
MSV3drs869025420
GWAS Ctlgrs869025420
Max Magnitude0
ClinVar
Risk rs869025420(-;-)
Alt rs869025420(-;-)
Reference Rs869025420(TG;TG)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48800871_48800872delCA
CLNSRC
CLNACC RCV000208330.1,