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rs2239633

From SNPedia

May influence risk of childhood B-cell acute lymphoblastic leukemia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C)
Make rs2239633(C;T)
Make rs2239633(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position23119848
GeneCEBPE
is asnp
is mentioned by
dbSNPrs2239633
ebirs2239633
HLIrs2239633
Exacrs2239633
Varsomers2239633
Maprs2239633
PheGenIrs2239633
hapmaprs2239633
1000 genomesrs2239633
hgdprs2239633
ensemblrs2239633
gopubmedrs2239633
geneviewrs2239633
scholarrs2239633
googlers2239633
pharmgkbrs2239633
gwascentralrs2239633
openSNPrs2239633
23andMers2239633
23andMe allrs2239633
SNP Nexus

SNPshotrs2239633
SNPdbers2239633
MSV3drs2239633
GWAS Ctlgrs2239633
GMAF0.3848
Max Magnitude
? (C;C) (C;T) (T;T) 28
GWAS snp
PMID [PMID 19684604]
Trait Acute lymphoblastic leukemia (childhood)
Title Loci on 7p12.2, 10q21.2 and 14q11.2 are associated with risk of childhood acute lymphoblastic leukemia
Risk Allele G
P-val 3E-7
Odds Ratio 1.34 [1.22-1.45]
OMIM613065
Desc
Variant
Relatedalso
[PMID 22422485OA-icon.png] Genetic variants modify susceptibility to leukemia in infants: A Children's Oncology Group report


[PMID 20919861] Variation at 7p12.2 and 10q21.2 influences childhood acute lymphoblastic leukemia risk in the Thai population and may contribute to racial differences in leukemia incidence.


GET Evidence
rs2239633
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.367188
summary



[PMID 24564228OA-icon.png] ARID5B polymorphism confers an increased risk to acquire specific MLL rearrangements in early childhood leukemia

GWAS snp
PMID [PMID 23996088]
Trait Acute lymphoblastic leukemia (B-cell precursor)
Title Variation at 10p12.2 and 10p14 influences risk of childhood B-cell acute lymphoblastic leukemia and phenotype.
Risk Allele
P-val 1E-16
Odds Ratio NR NR


[PMID 26177813] Replication analysis confirms the association of several variants with acute myeloid leukemia in Chinese population


[PMID 26388693OA-icon.png] A common genetic variation in CEBPE and acute lymphoblastic leukemia: a meta-analysis of the available evidence


[PMID 26575185OA-icon.png] Somatic Mutation Allelic Ratio Test Using ddPCR (SMART-ddPCR): An Accurate Method for Assessment of Preferential Allelic Imbalance in Tumor DNA


[PMID 27279837] Analysis of possible genetic risk factors contributing to development of childhood acute lymphoblastic leukaemia in the Latvian population.