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rs797044647

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044647(-;C)
Make rs797044647(C;C)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position40053999
GeneBCOR
is asnp
is mentioned by
dbSNPrs797044647
dbSNP (old)rs797044647
ClinGenrs797044647
ebirs797044647
HLIrs797044647
Exacrs797044647
Varsomers797044647
Maprs797044647
PheGenIrs797044647
Biobankrs797044647
1000 genomesrs797044647
hgdprs797044647
ensemblrs797044647
gopubmedrs797044647
geneviewrs797044647
scholarrs797044647
googlers797044647
pharmgkbrs797044647
gwascentralrs797044647
openSNPrs797044647
23andMers797044647
23andMe allrs797044647
SNP Nexus

SNPshotrs797044647
SNPdbers797044647
MSV3drs797044647
GWAS Ctlgrs797044647
Max Magnitude0
ClinVar
Risk rs797044647(C;C)
Alt rs797044647(C;C)
Reference Rs797044647(-;-)
Significance Pathogenic
Disease Oculofaciocardiodental syndrome
Variation info
Gene BCOR
CLNDBN Oculofaciocardiodental syndrome
Reversed 1
HGVS NC_000023.10:g.39913253dupG
CLNSRC
CLNACC RCV000174783.1,