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rs4132601

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 2.4 moderately (~2.5x) increased risk for acute lymphoblastic leukemia
(G;T) 1.7 somewhat (1.7x) increased risk for acute lymphoblastic leukemia
(T;T) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome7
Position50402906
GeneIKZF1
is asnp
is mentioned by
dbSNPrs4132601
ebirs4132601
HLIrs4132601
Exacrs4132601
Varsomers4132601
Maprs4132601
PheGenIrs4132601
hapmaprs4132601
1000 genomesrs4132601
hgdprs4132601
ensemblrs4132601
gopubmedrs4132601
geneviewrs4132601
scholarrs4132601
googlers4132601
pharmgkbrs4132601
gwascentralrs4132601
openSNPrs4132601
23andMers4132601
23andMe allrs4132601
SNP Nexus

SNPshotrs4132601
SNPdbers4132601
MSV3drs4132601
GWAS Ctlgrs4132601
GMAF0.2254
Max Magnitude2.4
? (G;G) (G;T) (T;T) 28
23andMe blog Acute lymphoblastic leukemia
  • each rs4132601(G) 1.69x odds of ALL
  • each rs7089424(G) 1.65x odds of ALL
  • each rs2239633(G) 1.34x odds of ALL

A meta-analysis published in 2014 based on a total of 15 case-control studies with 8333 cases and 36036 controls concluded that rs4132601 was associated with increased ALL risk in Caucasians and Hispanics but not among Asians.[PMID 25012940]

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 C
P-val 1E-19
Odds Ratio 1.69 [1.58-1.81]
OMIM613067
Desc
Variant
Relatedalso


[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
rs4132601
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.226562
summary



[PMID 26575185] 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.