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

?  (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 metaanalysis published in 2014 based on a total of 15 casecontrol 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]
[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 (SMARTddPCR): 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.