What you carry at this position in your DNA and what research says about it.
Colorectal Cancer Risk: 8/10 evidence, 34 publications.
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Sample genotype (not yours): G/G
Higher Colorectal Cancer Risk
Carrying two copies of the G allele is associated with an increased risk of developing colorectal cancer. This genotype is also linked to a younger age of cancer onset and a poorer response to certain chemotherapy treatments.
What this genotype means: Increased risk of colorectal cancer; Potential for younger age of disease onset; Poorer response to standard chemotherapy.
Sample genotype (not yours): A/A
Lower Colorectal Cancer Risk
Carrying two copies of the A allele is associated with a significantly lower risk of colorectal cancer. This genotype is also linked to a later age of onset and a better response to chemotherapy.
What this genotype means: Reduced risk of colorectal cancer; Later average age of disease onset; Better response to chemotherapy and improved survival outcomes.
Sample genotype (not yours): G/A
Moderately Higher Colorectal Cancer Risk
Carrying one copy of the G allele is associated with a moderately increased risk of colorectal cancer. However, the presence of the protective A allele may offer some benefits, such as a better response to chemotherapy.
What this genotype means: Moderately increased risk of colorectal cancer; Slightly younger age of disease onset; Improved response to chemotherapy compared to G/G.
Gene function and biological role
Gene Function: The 10p14 chromosomal region contains several non-coding RNA genes and pseudogenes, including LOC105376400 and RNA5SP299 [1]. Although this region does not encode a traditional protein, it acts as a regulatory hub that influences the expression of neighboring genes [2]. Specifically, genetic variations in this region have been shown to alter the expression of ATP5C1, a gene involved in mitochondrial energy production and cellular metabolism [2]. This regulatory activity is thought to play a role in colon cell division and tumor development [2].
Variant Impact: The rs10795668 variant is an intronic single nucleotide polymorphism located on chromosome 10p14 [1]. This genetic change does not alter a protein sequence directly but instead modifies a regulatory element that controls nearby gene expression [2]. The G allele is associated with lower expression of ATP5C1 in colon tissues, which may disrupt normal mitochondrial metabolism and promote tumor growth [2]. Conversely, the protective A allele is linked to higher ATP5C1 expression, helping maintain healthy cellular function [2].
Key Insight: This variant acts as a genetic volume dial for mitochondrial energy production in colon cells, where the protective A allele boosts cellular metabolism to help prevent tumor growth.
Location: GATA3. Chromosome 10 · 10p14 · 8.7 Mb
Estimated prevalence by population
Global 58.3%; European 46.0%; African 88.3%; East Asian 39.9%; South Asian 56.6%; Americas 47.4%; Ashkenazi 48.3%; Finnish 50.1%; Middle Eastern 50.1%; Amish 42.0%.
Estimated GG genotype frequency.
Global 34.4%; European 43.6%; African 11.4%; East Asian 46.5%; South Asian 37.3%; Americas 42.9%; Ashkenazi 42.4%; Finnish 41.3%; Middle Eastern 41.4%; Amish 45.6%.
Estimated GA genotype frequency.
Global 7.4%; European 10.3%; African 0.4%; East Asian 13.6%; South Asian 6.1%; Americas 9.7%; Ashkenazi 9.3%; Finnish 8.5%; Middle Eastern 8.6%; Amish 12.4%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Colorectal Cancer
Colorectal Cancer. Evidence: 8/10. Source: PMID 18372905. Increased Risk.
Rectal Cancer. Evidence: 4/10. Source: PMID 22848671. Increased Risk.
Cancer Prognosis & Treatment Outcome
Age of Cancer Onset. Evidence: 3/10. Source: PMID 22235025. Younger Age.
Pharmacogenomics
Chemotherapy Response
Chemotherapy Response. Evidence: 3/10. Source: PMID 21402474. Poorer Response.
Showing effects for A/A genotype
Colorectal Cancer. Evidence: 8/10. Source: PMID 18372905. Typical Risk.
Rectal Cancer. Evidence: 4/10. Source: PMID 22848671. Typical Risk.
Age of Cancer Onset. Evidence: 3/10. Source: PMID 22235025. Typical Age.
Chemotherapy Response. Evidence: 3/10. Source: PMID 21402474. Stronger Response.
Showing effects for G/A genotype
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
This genotype represents the baseline genetic profile for the majority of the population, carrying two copies of the G risk allele [1]. Large-scale genome-wide association studies have consistently linked this profile to a moderately increased risk of colorectal cancer [2]. In addition to overall risk, clinical studies have found that individuals with this genotype who develop colorectal cancer tend to experience a younger age of disease onset [3]. The G allele is also associated with poorer survival outcomes and a higher rate of recurrence following standard chemotherapy regimens [4]. This is thought to be driven by the variant's regulatory effect on ATP5C1, which reduces its expression and alters mitochondrial metabolism in colon cells [5].
Increased risk of colorectal cancer; Potential for younger age of disease onset; Poorer response to standard chemotherapy.
Sample genotype: AA (Homozygous)
This genotype is the most protective profile at the 10p14 locus, carrying two copies of the A allele [1]. Multiple large-scale studies have demonstrated that individuals with this genotype have a significantly reduced risk of developing colorectal cancer [2]. If cancer does develop, this profile is associated with a later age of disease onset and a more favorable prognosis [3]. Furthermore, clinical data indicate that patients with this genotype experience better survival rates and a lower risk of recurrence when undergoing chemotherapy [4]. These positive outcomes are biologically supported by the A allele's role in upregulating ATP5C1 expression, which helps maintain normal mitochondrial function and prevents tumor-promoting metabolic shifts [5].
Reduced risk of colorectal cancer; Later average age of disease onset; Better response to chemotherapy and improved survival outcomes.
Sample genotype: GA (Heterozygous)
This heterozygous genotype carries one copy of the G risk allele and one copy of the protective A allele [1]. Individuals with this profile have a moderately elevated risk of developing colorectal cancer compared to those with the A/A genotype, though their risk is typically lower than those with the G/G genotype [2]. Interestingly, the presence of the A allele has been linked to a significantly better response to chemotherapy and a lower risk of cancer recurrence [3]. This dual effect highlights the complex role of the 10p14 locus in both cancer susceptibility and prognosis [4]. The A allele's protective influence is believed to stem from its ability to increase the expression of ATP5C1, supporting healthier cellular metabolism [5].
Moderately increased risk of colorectal cancer; Slightly younger age of disease onset; Improved response to chemotherapy compared to G/G.
Variants with shared genetic architecture
rs3824662 · GATA3 Gene · Chr 10 · Leukemia and Lymphoma Risk
rs10411210 · RHPN2 Gene · Chr 19 · Colorectal Cancer Risk
rs10774214 · CCND2-AS1 Gene · Chr 12 · Colorectal Cancer Risk
Susceptibility genetic variants associated with early-onset colorectal cancer.
GWAS-identified colorectal cancer susceptibility locus associates with disease prognosis.
Content updated August 2026.
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