rs4132601

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

7

Position

50402906

Gene

IKZF1

is a	snp
is	mentioned by
dbSNP	rs4132601
dbSNP (classic)	rs4132601
ClinGen	rs4132601
ebi	rs4132601
HLI	rs4132601
Exac	rs4132601
Gnomad	rs4132601
Varsome	rs4132601
LitVar	rs4132601
Map	rs4132601
PheGenI	rs4132601
Biobank	rs4132601
1000 genomes	rs4132601
hgdp	rs4132601
ensembl	rs4132601
geneview	rs4132601
scholar	rs4132601
google	rs4132601
pharmgkb	rs4132601
gwascentral	rs4132601
openSNP	rs4132601
23andMe	rs4132601
SNPshot	rs4132601
SNPdbe	rs4132601
MSV3d	rs4132601
GWAS Ctlg	rs4132601

GMAF

0.2254

Max Magnitude

2.4

?	(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]

OMIM	613067
Desc
Variant
Related	also

[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.

[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.

[PMID 28768142] Contributions of IKZF1, DDC, CDKN2A, CEBPE, and LMO1 Gene Polymorphisms to Acute Lymphoblastic Leukemia in a Yemeni Population.

[PMID 31604453] IKZF1 genetic variants rs4132601 and rs11978267 and acute lymphoblastic leukemia risk in Tunisian children: a case-control study.