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rs730880034

From SNPedia

Orientationminus
Geno Mag Summary
(CATGC;CATGC) 0 common in clinvar
Make rs730880034(-;-)
Make rs730880034(-;CATGC)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position40062259
GeneBCOR
is asnp
is mentioned by
dbSNPrs730880034
ebirs730880034
HLIrs730880034
Exacrs730880034
Varsomers730880034
Maprs730880034
PheGenIrs730880034
hapmaprs730880034
1000 genomesrs730880034
hgdprs730880034
ensemblrs730880034
gopubmedrs730880034
geneviewrs730880034
scholarrs730880034
googlers730880034
pharmgkbrs730880034
gwascentralrs730880034
openSNPrs730880034
23andMers730880034
23andMe allrs730880034
SNP Nexus

SNPshotrs730880034
SNPdbers730880034
MSV3drs730880034
GWAS Ctlgrs730880034
Max Magnitude0
ClinVar
Risk rs730880034(;)
Alt rs730880034(;)
Reference rs730880034(CATGC;CATGC)
Significance Pathogenic
Disease Oculofaciocardiodental syndrome
Variation info
Gene BCOR
CLNDBN Oculofaciocardiodental syndrome
Reversed 1
HGVS NC_000023.10:g.39921512_39921516delGCATG
CLNSRC OMIM Allelic Variant
CLNACC RCV000157082.3,