What you carry at this position in your DNA and what research says about it.
Childhood Leukemia Risk: 8/10 evidence, 18 publications.
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Sample genotype (not yours): C/C
Higher Risk of Childhood Leukemia
Inheriting two copies of the C allele significantly increases the susceptibility to childhood B-cell acute lymphoblastic leukemia. It also correlates with a slight increase in adult height.
What this genotype means: Increased risk of childhood acute lymphoblastic leukemia; Slightly higher adult height; Elevated levels of certain immune system proteins.
Sample genotype (not yours): C/T
Inheriting one copy of the C allele is associated with an increased risk of childhood acute lymphoblastic leukemia. It also correlates with a slight increase in adult height.
Sample genotype (not yours): T/T
Typical Risk of Childhood Leukemia
Two copies of the T allele represent the typical baseline risk for childhood leukemia. This combination is also associated with typical adult height.
What this genotype means: Typical baseline risk of childhood acute lymphoblastic leukemia; Typical adult height; Standard baseline levels of certain immune system proteins.
Gene function and biological role
Gene Function: The ARID5B gene encodes a member of the AT-rich interaction domain transcription factor family. It plays a crucial role in regulating embryonic development, cell growth, and differentiation [1]. Specifically, ARID5B is essential for normal B-cell development in the bone marrow, acting as a transcriptional co-regulator [2]. It also plays a role in lipid metabolism, adipogenesis, and chondrogenesis [2]. Reduced expression of this gene is linked to impaired immune cell maturation and leukemogenesis [3].
Variant Impact: The rs10821936 variant is an intronic single nucleotide polymorphism located within the ARID5B gene. This genetic change alters the transcriptional regulation of ARID5B, leading to lower expression of the gene in immune cells [3]. Reduced ARID5B levels disrupt the normal maturation of B-cell progenitors, leaving them vulnerable to oncogenic mutations [1]. Consequently, this variant is one of the most strongly associated genetic risk factors for childhood acute lymphoblastic leukemia [4]. The frequency of the risk-associated C allele varies significantly across different ancestral populations [3].
Key Insight: This genetic variant is one of the strongest known genetic risk factors for childhood leukemia, yet the absolute risk of developing the disease remains extremely low.
Location: ARID5B. Chromosome 10 · 10q21.2 · 62.0 Mb
Estimated prevalence by population
Global 10.3%; European 10.6%; African 5.1%; East Asian 13.1%; South Asian 24.5%; Americas 19.7%; Ashkenazi 10.1%; Finnish 6.9%; Middle Eastern 13.4%; Amish 8.5%.
Estimated CC genotype frequency.
Global 41.9%; European 43.9%; African 35.0%; East Asian 46.2%; South Asian 50.0%; Americas 49.4%; Ashkenazi 43.4%; Finnish 38.8%; Middle Eastern 46.4%; Amish 41.3%.
Estimated CT genotype frequency.
Global 47.8%; European 45.5%; African 59.9%; East Asian 40.7%; South Asian 25.5%; Americas 31.0%; Ashkenazi 46.5%; Finnish 54.3%; Middle Eastern 40.1%; Amish 50.2%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cancer & Oncology
Blood Cancers
Childhood Leukemia. Evidence: 8/10. Source: PMID 19684603. Increased Risk.
Lifestyle, Fitness & Aging
Height & Body Size
Height. Evidence: 6/10. Source: PMID 37106081. Slightly Taller.
Immunity & Inflammation
Inflammatory & Circulating Protein Markers
Immune Protein Levels. Evidence: 6/10. Source: PMID 34648354. Elevated Levels.
Showing effects for C/T genotype
Showing effects for T/T genotype
Childhood Leukemia. Evidence: 8/10. Source: PMID 19684603. Typical Risk.
Height. Evidence: 6/10. Source: PMID 37106081. Typical Height.
Immune Protein Levels. Evidence: 6/10. Source: PMID 34648354. Typical Levels.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Inheriting two copies of the C allele at this locus is associated with a significantly increased risk of developing childhood acute lymphoblastic leukemia, particularly the B-cell precursor subtype [1]. Research indicates that this variant alters the expression of the ARID5B gene, which is critical for the normal development and differentiation of B-lineage lymphocytes [2]. When ARID5B expression is reduced, B-cell progenitors can become trapped in an immature state, making them highly susceptible to malignant transformation [3]. This specific genetic variant has been replicated across multiple diverse ethnic populations, confirming its robust role in leukemia susceptibility [4]. In addition to leukemia risk, the C allele is associated with a slight increase in adult height [5]. It also correlates with elevated levels of specific immune system proteins, such as fc receptor-like protein 1 [6]. While the relative risk is higher, the absolute risk of developing childhood leukemia remains very low for any individual.
Increased risk of childhood acute lymphoblastic leukemia; Slightly higher adult height; Elevated levels of certain immune system proteins.
Sample genotype: CT (Heterozygous)
Inheriting one copy of the C allele at this locus is associated with an intermediate to high risk of developing childhood acute lymphoblastic leukemia compared to those with the T/T genotype [1]. The presence of the C allele leads to reduced expression of the ARID5B transcription factor in developing immune cells [2]. This reduction can impair the normal maturation process of B-cells, creating a cellular environment that is more vulnerable to acquiring cancer-promoting mutations [3]. Multiple genome-wide association studies have consistently identified this variant as a key susceptibility locus across various ancestries [4]. Beyond its role in immune cell development, the C allele is linked to a minor increase in adult height [5]. It is also associated with higher levels of certain immune-related proteins, including fc receptor-like protein 1 [6]. Despite the statistical association with leukemia, the vast majority of children carrying this allele will never develop the disease. This genetic finding is intended for informational purposes and does not warrant any specialized medical monitoring or screening.
Sample genotype: TT (Homozygous)
Two copies of the T allele represent the typical baseline genetic risk for childhood acute lymphoblastic leukemia [1]. This genotype is associated with normal, healthy expression levels of the ARID5B transcription factor during immune cell development [2]. With adequate ARID5B levels, B-cell progenitors mature normally in the bone marrow, reducing the likelihood of cellular arrest that can lead to leukemia [3]. Large-scale genetic studies across diverse populations have confirmed that individuals with the T/T genotype have the lowest susceptibility to this pediatric cancer at this locus [4]. In terms of physical traits, the T/T genotype is associated with typical adult height [5]. It also correlates with standard baseline levels of immune system proteins like fc receptor-like protein 1 [6]. Because this is the most common genotype globally, it serves as the standard reference point for health and physical measurements. No special precautions or clinical interventions are necessary.
Typical baseline risk of childhood acute lymphoblastic leukemia; Typical adult height; Standard baseline levels of certain immune system proteins.
Variants with shared genetic architecture
rs71508903 · ARID5B Gene · Chr 10 · Autoimmune and Thyroid Risk
rs7089424 · ARID5B Gene · Chr 10 · Leukemia Risk
rs2239630 · CEBPE Gene · Chr 14 · B-Cell Leukemia Risk
Identification of four novel associations for B-cell acute lymphoblastic leukaemia risk.
Mapping the proteo-genomic convergence of human diseases.
Germline genomic variants associated with childhood acute lymphoblastic leukemia.
Participation bias in the UK Biobank distorts genetic associations and downstream analyses.
Content updated August 2026.
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