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rs869312833

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312833(C;T)
Make rs869312833(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position151406034
GenePOGZ
is asnp
is mentioned by
dbSNPrs869312833
dbSNP (classic)rs869312833
ClinGenrs869312833
ebirs869312833
HLIrs869312833
Exacrs869312833
Gnomadrs869312833
Varsomers869312833
LitVarrs869312833
Maprs869312833
PheGenIrs869312833
Biobankrs869312833
1000 genomesrs869312833
hgdprs869312833
ensemblrs869312833
geneviewrs869312833
scholarrs869312833
googlers869312833
pharmgkbrs869312833
gwascentralrs869312833
openSNPrs869312833
23andMers869312833
SNPshotrs869312833
SNPdbers869312833
MSV3drs869312833
GWAS Ctlgrs869312833
Max Magnitude0
ClinVar
Risk rs869312833(T;T)
Alt rs869312833(T;T)
Reference Rs869312833(C;C)
Significance Pathogenic
Disease White-sutton syndrome not provided
Variation info
Gene POGZ
CLNDBN White-sutton syndrome not provided
Reversed 1
HGVS NC_000001.10:g.151378510G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210296.1, RCV000487152.1,