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rs372292910

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs372292910(-;-)
Make rs372292910(-;A)
ReferenceGRCh38.p2 38.2/144
Chromosome5
Position141122913
GenePCDHB4
is asnp
is mentioned by
dbSNPrs372292910
dbSNP (classic)rs372292910
ClinGenrs372292910
ebirs372292910
HLIrs372292910
Exacrs372292910
Gnomadrs372292910
Varsomers372292910
LitVarrs372292910
Maprs372292910
PheGenIrs372292910
Biobankrs372292910
1000 genomesrs372292910
hgdprs372292910
ensemblrs372292910
geneviewrs372292910
scholarrs372292910
googlers372292910
pharmgkbrs372292910
gwascentralrs372292910
openSNPrs372292910
23andMers372292910
SNPshotrs372292910
SNPdbers372292910
MSV3drs372292910
GWAS Ctlgrs372292910
Max Magnitude0
ClinVar
Risk rs372292910(-;-)
Alt rs372292910(-;-)
Reference Rs372292910(A;A)
Significance Probable-Pathogenic
Disease Intellectual disability Microcephaly Seizures
Variation info
Gene PCDHB4
CLNDBN Intellectual disability Microcephaly Seizures
Reversed 0
HGVS NC_000005.9:g.140502495delA
CLNSRC
CLNACC RCV000162121.1,