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rs879255571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs879255571(-;A)
Make rs879255571(A;A)
ReferenceGRCh38.p7 38.3/149
Chromosome16
Position67620796
GeneCTCF
is asnp
is mentioned by
dbSNPrs879255571
dbSNP (classic)rs879255571
ClinGenrs879255571
ebirs879255571
HLIrs879255571
Exacrs879255571
Gnomadrs879255571
Varsomers879255571
LitVarrs879255571
Maprs879255571
PheGenIrs879255571
Biobankrs879255571
1000 genomesrs879255571
hgdprs879255571
ensemblrs879255571
geneviewrs879255571
scholarrs879255571
googlers879255571
pharmgkbrs879255571
gwascentralrs879255571
openSNPrs879255571
23andMers879255571
SNPshotrs879255571
SNPdbers879255571
MSV3drs879255571
GWAS Ctlgrs879255571
Max Magnitude0
ClinVar
Risk rs879255571(A;A)
Alt rs879255571(A;A)
Reference Rs879255571(-;-)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene CTCF
CLNDBN Mental retardation, autosomal dominant 21
Reversed 0
HGVS NC_000016.9:g.67654699dupA
CLNSRC OMIM Allelic Variant
CLNACC RCV000074334.3,