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rs730880013

From SNPedia

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs730880013(-;-)
Make rs730880013(-;C)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position40072733
GeneBCOR
is asnp
is mentioned by
dbSNPrs730880013
ebirs730880013
HLIrs730880013
Exacrs730880013
Varsomers730880013
Maprs730880013
PheGenIrs730880013
hapmaprs730880013
1000 genomesrs730880013
hgdprs730880013
ensemblrs730880013
gopubmedrs730880013
geneviewrs730880013
scholarrs730880013
googlers730880013
pharmgkbrs730880013
gwascentralrs730880013
openSNPrs730880013
23andMers730880013
23andMe allrs730880013
SNP Nexus

SNPshotrs730880013
SNPdbers730880013
MSV3drs730880013
GWAS Ctlgrs730880013
Max Magnitude0
ClinVar
Risk rs730880013(;)
Alt rs730880013(;)
Reference rs730880013(C;C)
Significance Pathogenic
Disease Oculofaciocardiodental syndrome
Variation info
Gene BCOR
CLNDBN Oculofaciocardiodental syndrome
Reversed 1
HGVS NC_000023.10:g.39931986delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000011666.8,