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

rs869320764

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AG;AG) 0 common in clinvar
Make rs869320764(-;-)
Make rs869320764(-;AG)
ReferenceGRCh38.p2 38.2/147
Chromosome1
Position151405578
GenePOGZ
is asnp
is mentioned by
dbSNPrs869320764
dbSNP (classic)rs869320764
ClinGenrs869320764
ebirs869320764
HLIrs869320764
Exacrs869320764
Gnomadrs869320764
Varsomers869320764
LitVarrs869320764
Maprs869320764
PheGenIrs869320764
Biobankrs869320764
1000 genomesrs869320764
hgdprs869320764
ensemblrs869320764
geneviewrs869320764
scholarrs869320764
googlers869320764
pharmgkbrs869320764
gwascentralrs869320764
openSNPrs869320764
23andMers869320764
SNPshotrs869320764
SNPdbers869320764
MSV3drs869320764
GWAS Ctlgrs869320764
Max Magnitude0
ClinVar
Risk rs869320764(-;-)
Alt rs869320764(-;-)
Reference Rs869320764(AG;AG)
Significance Pathogenic
Disease White-sutton syndrome
Variation info
Gene POGZ
CLNDBN White-sutton syndrome
Reversed 1
HGVS NC_000001.10:g.151378054_151378055delCT
CLNSRC OMIM Allelic Variant
CLNACC RCV000210322.1,