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rs869025424

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 5.5 Marfan syndrome mutation
(A;A) 0 common in clinvar


Make rs869025424(-;-)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48425810
GeneFBN1
is asnp
is mentioned by
dbSNPrs869025424
dbSNP (classic)rs869025424
ClinGenrs869025424
ebirs869025424
HLIrs869025424
Exacrs869025424
Gnomadrs869025424
Varsomers869025424
LitVarrs869025424
Maprs869025424
PheGenIrs869025424
Biobankrs869025424
1000 genomesrs869025424
hgdprs869025424
ensemblrs869025424
geneviewrs869025424
scholarrs869025424
googlers869025424
pharmgkbrs869025424
gwascentralrs869025424
openSNPrs869025424
23andMers869025424
SNPshotrs869025424
SNPdbers869025424
MSV3drs869025424
GWAS Ctlgrs869025424
Max Magnitude5.5
ClinVar
Risk rs869025424(-;-)
Alt rs869025424(-;-)
Reference Rs869025424(A;A)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48718007delT
CLNSRC
CLNACC RCV000208150.1,