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rs863224850

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224850(C;T)
Make rs863224850(T;T)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position40062808
GeneBCOR
is asnp
is mentioned by
dbSNPrs863224850
dbSNP (classic)rs863224850
ClinGenrs863224850
ebirs863224850
HLIrs863224850
Exacrs863224850
Gnomadrs863224850
Varsomers863224850
LitVarrs863224850
Maprs863224850
PheGenIrs863224850
Biobankrs863224850
1000 genomesrs863224850
hgdprs863224850
ensemblrs863224850
geneviewrs863224850
scholarrs863224850
googlers863224850
pharmgkbrs863224850
gwascentralrs863224850
openSNPrs863224850
23andMers863224850
SNPshotrs863224850
SNPdbers863224850
MSV3drs863224850
GWAS Ctlgrs863224850
Max Magnitude0
ClinVar
Risk rs863224850(T;T)
Alt rs863224850(T;T)
Reference Rs863224850(C;C)
Significance Probable-Pathogenic
Disease Oculofaciocardiodental syndrome
Variation info
Gene BCOR
CLNDBN Oculofaciocardiodental syndrome
Reversed 1
HGVS NC_000023.10:g.39922061G>A
CLNSRC
CLNACC RCV000198068.1,