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rs864321673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs864321673(C;G)
Make rs864321673(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome1
Position151428149
GenePOGZ
is asnp
is mentioned by
dbSNPrs864321673
dbSNP (classic)rs864321673
ClinGenrs864321673
ebirs864321673
HLIrs864321673
Exacrs864321673
Gnomadrs864321673
Varsomers864321673
LitVarrs864321673
Maprs864321673
PheGenIrs864321673
Biobankrs864321673
1000 genomesrs864321673
hgdprs864321673
ensemblrs864321673
geneviewrs864321673
scholarrs864321673
googlers864321673
pharmgkbrs864321673
gwascentralrs864321673
openSNPrs864321673
23andMers864321673
SNPshotrs864321673
SNPdbers864321673
MSV3drs864321673
GWAS Ctlgrs864321673
Max Magnitude0
ClinVar
Risk rs864321673(G;G)
Alt rs864321673(G;G)
Reference Rs864321673(C;C)
Significance Pathogenic
Disease White-sutton syndrome
Variation info
Gene POGZ
CLNDBN White-sutton syndrome
Reversed 1
HGVS NC_000001.10:g.151400625G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000203582.1,