Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434618(C;T)
Make rs121434618(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position40075092
GeneBCOR
is asnp
is mentioned by
dbSNPrs121434618
ebirs121434618
HLIrs121434618
Exacrs121434618
Varsomers121434618
Maprs121434618
PheGenIrs121434618
hapmaprs121434618
1000 genomesrs121434618
hgdprs121434618
ensemblrs121434618
gopubmedrs121434618
geneviewrs121434618
scholarrs121434618
googlers121434618
pharmgkbrs121434618
gwascentralrs121434618
openSNPrs121434618
23andMers121434618
23andMe allrs121434618
SNP Nexus

SNPshotrs121434618
SNPdbers121434618
MSV3drs121434618
GWAS Ctlgrs121434618
Merged fromRs28935183
Max Magnitude0
OMIM300485
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121434618(T;T)
Alt rs121434618(T;T)
Reference rs121434618(C;C)
Significance Pathogenic
Disease Oculofaciocardiodental syndrome
Variation info
Gene BCOR
CLNDBN Oculofaciocardiodental syndrome
Reversed 1
HGVS NC_000023.10:g.39934345G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011658.8,