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

rs864309680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAGA;GAGA) 0 common in clinvar
Make rs864309680(-;-)
Make rs864309680(-;GAGA)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position40062174
GeneBCOR
is asnp
is mentioned by
dbSNPrs864309680
dbSNP (old)rs864309680
ClinGenrs864309680
ebirs864309680
HLIrs864309680
Exacrs864309680
Gnomadrs864309680
Varsomers864309680
Maprs864309680
PheGenIrs864309680
Biobankrs864309680
1000 genomesrs864309680
hgdprs864309680
ensemblrs864309680
gopubmedrs864309680
geneviewrs864309680
scholarrs864309680
googlers864309680
pharmgkbrs864309680
gwascentralrs864309680
openSNPrs864309680
23andMers864309680
23andMe allrs864309680
SNP Nexus

SNPshotrs864309680
SNPdbers864309680
MSV3drs864309680
GWAS Ctlgrs864309680
Max Magnitude0
ClinVar
Risk rs864309680(-;-)
Alt rs864309680(-;-)
Reference Rs864309680(GAGA;GAGA)
Significance Pathogenic
Disease Congenital cataract
Variation info
Gene BCOR
CLNDBN Congenital cataract
Reversed 1
HGVS NC_000023.10:g.39921427_39921430delTCTC
CLNSRC
CLNACC RCV000203367.1,