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rs879255516

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs879255516(C;T)
Make rs879255516(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position67628550
GeneCTCF
is asnp
is mentioned by
dbSNPrs879255516
dbSNP (classic)rs879255516
ClinGenrs879255516
ebirs879255516
HLIrs879255516
Exacrs879255516
Gnomadrs879255516
Varsomers879255516
LitVarrs879255516
Maprs879255516
PheGenIrs879255516
Biobankrs879255516
1000 genomesrs879255516
hgdprs879255516
ensemblrs879255516
geneviewrs879255516
scholarrs879255516
googlers879255516
pharmgkbrs879255516
gwascentralrs879255516
openSNPrs879255516
23andMers879255516
SNPshotrs879255516
SNPdbers879255516
MSV3drs879255516
GWAS Ctlgrs879255516
Max Magnitude0
ClinVar
Risk rs879255516(T;T)
Alt rs879255516(T;T)
Reference Rs879255516(C;C)
Significance Pathogenic
Disease Mental retardation not provided
Variation info
Gene CTCF
CLNDBN Mental retardation, autosomal dominant 21 not provided
Reversed 0
HGVS NC_000016.9:g.67662453C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074335.3, RCV000413282.1,