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rs863223547

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs863223547(A;A)
Make rs863223547(A;T)
ReferenceGRCh38.p2 38.2/146
Chromosome5
Position128527879
GeneFBN2
is asnp
is mentioned by
dbSNPrs863223547
dbSNP (classic)rs863223547
ClinGenrs863223547
ebirs863223547
HLIrs863223547
Exacrs863223547
Gnomadrs863223547
Varsomers863223547
LitVarrs863223547
Maprs863223547
PheGenIrs863223547
Biobankrs863223547
1000 genomesrs863223547
hgdprs863223547
ensemblrs863223547
geneviewrs863223547
scholarrs863223547
googlers863223547
pharmgkbrs863223547
gwascentralrs863223547
openSNPrs863223547
23andMers863223547
SNPshotrs863223547
SNPdbers863223547
MSV3drs863223547
GWAS Ctlgrs863223547
Max Magnitude0
ClinVar
Risk rs863223547(A;A)
Alt rs863223547(A;A)
Reference Rs863223547(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene FBN2
CLNDBN not provided
Reversed 1
HGVS NC_000005.9:g.127863572A>T
CLNSRC
CLNACC RCV000196628.1,