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rs387907105

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387907105(G;G)
Make rs387907105(G;T)
ReferenceGRCh38 38.1/141
Chromosome6
Position109475465
GeneZBTB24
is asnp
is mentioned by
dbSNPrs387907105
dbSNP (classic)rs387907105
ClinGenrs387907105
ebirs387907105
HLIrs387907105
Exacrs387907105
Gnomadrs387907105
Varsomers387907105
LitVarrs387907105
Maprs387907105
PheGenIrs387907105
Biobankrs387907105
1000 genomesrs387907105
hgdprs387907105
ensemblrs387907105
geneviewrs387907105
scholarrs387907105
googlers387907105
pharmgkbrs387907105
gwascentralrs387907105
openSNPrs387907105
23andMers387907105
SNPshotrs387907105
SNPdbers387907105
MSV3drs387907105
GWAS Ctlgrs387907105
Max Magnitude0
ClinVar
Risk rs387907105(G;G)
Alt rs387907105(G;G)
Reference Rs387907105(T;T)
Significance Pathogenic
Disease Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Variation info
Gene ZBTB24
CLNDBN Immunodeficiency-centromeric instability-facial anomalies syndrome 2
Reversed 1
HGVS NC_000006.11:g.109796668A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000024091.3,