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rs869025405

From SNPedia

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


Make rs869025405(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position48494237
GeneFBN1
is asnp
is mentioned by
dbSNPrs869025405
dbSNP (classic)rs869025405
ClinGenrs869025405
ebirs869025405
HLIrs869025405
Exacrs869025405
Gnomadrs869025405
Varsomers869025405
LitVarrs869025405
Maprs869025405
PheGenIrs869025405
Biobankrs869025405
1000 genomesrs869025405
hgdprs869025405
ensemblrs869025405
geneviewrs869025405
scholarrs869025405
googlers869025405
pharmgkbrs869025405
gwascentralrs869025405
openSNPrs869025405
23andMers869025405
SNPshotrs869025405
SNPdbers869025405
MSV3drs869025405
GWAS Ctlgrs869025405
Max Magnitude5.5
ClinVar
Risk rs869025405(A;A)
Alt rs869025405(A;A)
Reference Rs869025405(G;G)
Significance Probable-Pathogenic
Disease Marfan syndrome
Variation info
Gene FBN1
CLNDBN Marfan syndrome
Reversed 1
HGVS NC_000015.9:g.48786434C>T
CLNSRC
CLNACC RCV000208274.1,