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rs864309702

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TTAG;TTAG) 0 common in clinvar
Make rs864309702(-;-)
Make rs864309702(-;TTAG)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position40074207
GeneBCOR
is asnp
is mentioned by
dbSNPrs864309702
dbSNP (old)rs864309702
ClinGenrs864309702
ebirs864309702
HLIrs864309702
Exacrs864309702
Gnomadrs864309702
Varsomers864309702
Maprs864309702
PheGenIrs864309702
Biobankrs864309702
1000 genomesrs864309702
hgdprs864309702
ensemblrs864309702
gopubmedrs864309702
geneviewrs864309702
scholarrs864309702
googlers864309702
pharmgkbrs864309702
gwascentralrs864309702
openSNPrs864309702
23andMers864309702
23andMe allrs864309702
SNP Nexus

SNPshotrs864309702
SNPdbers864309702
MSV3drs864309702
GWAS Ctlgrs864309702
Max Magnitude0
ClinVar
Risk rs864309702(-;-)
Alt rs864309702(-;-)
Reference Rs864309702(TTAG;TTAG)
Significance Pathogenic
Disease Congenital cataract
Variation info
Gene BCOR
CLNDBN Congenital cataract
Reversed 1
HGVS NC_000023.10:g.39933460_39933463delCTAA
CLNSRC
CLNACC RCV000203315.1,