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rs864321667

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321667(-;-)
Make rs864321667(-;C)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position151405681
GenePOGZ
is asnp
is mentioned by
dbSNPrs864321667
dbSNP (classic)rs864321667
ClinGenrs864321667
ebirs864321667
HLIrs864321667
Exacrs864321667
Gnomadrs864321667
Varsomers864321667
LitVarrs864321667
Maprs864321667
PheGenIrs864321667
Biobankrs864321667
1000 genomesrs864321667
hgdprs864321667
ensemblrs864321667
geneviewrs864321667
scholarrs864321667
googlers864321667
pharmgkbrs864321667
gwascentralrs864321667
openSNPrs864321667
23andMers864321667
SNPshotrs864321667
SNPdbers864321667
MSV3drs864321667
GWAS Ctlgrs864321667
Max Magnitude0
ClinVar
Risk rs864321667(-;-)
Alt rs864321667(-;-)
Reference Rs864321667(C;C)
Significance Pathogenic
Disease White-sutton syndrome
Variation info
Gene POGZ
CLNDBN White-sutton syndrome
Reversed 1
HGVS NC_000001.10:g.151378157delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000170495.4,