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rs121434619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434619(C;T)
Make rs121434619(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position40072420
GeneBCOR
is asnp
is mentioned by
dbSNPrs121434619
ebirs121434619
HLIrs121434619
Exacrs121434619
Varsomers121434619
Maprs121434619
PheGenIrs121434619
hapmaprs121434619
1000 genomesrs121434619
hgdprs121434619
ensemblrs121434619
gopubmedrs121434619
geneviewrs121434619
scholarrs121434619
googlers121434619
pharmgkbrs121434619
gwascentralrs121434619
openSNPrs121434619
23andMers121434619
23andMe allrs121434619
SNP Nexus

SNPshotrs121434619
SNPdbers121434619
MSV3drs121434619
GWAS Ctlgrs121434619
Max Magnitude0
OMIM300485
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434619(T;T)
Alt rs121434619(T;T)
Reference rs121434619(C;C)
Significance Pathogenic
Disease Oculofaciocardiodental syndrome
Variation info
Gene BCOR
CLNDBN Oculofaciocardiodental syndrome
Reversed 1
HGVS NC_000023.10:g.39931673G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011660.10,