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rs864321671

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CTCT;CTCT) 0 common in clinvar
Make rs864321671(-;-)
Make rs864321671(-;CTCT)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position151408151
GenePOGZ
is asnp
is mentioned by
dbSNPrs864321671
dbSNP (classic)rs864321671
ClinGenrs864321671
ebirs864321671
HLIrs864321671
Exacrs864321671
Gnomadrs864321671
Varsomers864321671
LitVarrs864321671
Maprs864321671
PheGenIrs864321671
Biobankrs864321671
1000 genomesrs864321671
hgdprs864321671
ensemblrs864321671
geneviewrs864321671
scholarrs864321671
googlers864321671
pharmgkbrs864321671
gwascentralrs864321671
openSNPrs864321671
23andMers864321671
SNPshotrs864321671
SNPdbers864321671
MSV3drs864321671
GWAS Ctlgrs864321671
Max Magnitude0
ClinVar
Risk rs864321671(-;-)
Alt rs864321671(-;-)
Reference Rs864321671(CTCT;CTCT)
Significance Pathogenic
Disease White-sutton syndrome Smith-Magenis Syndrome-like
Variation info
Gene POGZ
CLNDBN White-sutton syndrome Smith-Magenis Syndrome-like
Reversed 1
HGVS NC_000001.10:g.151380627_151380630delAGAG
CLNSRC
CLNACC RCV000203579.1, RCV000490852.1,