What you carry at this position in your DNA and what research says about it.
Metabolic Fat Distribution: 10/10 evidence, 41 publications.
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Sample genotype (not yours): C/C
Higher Risk of Type 2 Diabetes and Unfavorable Lipids
Inheriting two copies of the C allele is associated with an unfavorable fat storage pattern. This genotype is linked to higher triglycerides, lower HDL cholesterol, and an elevated risk of metabolic issues.
What this genotype means: Increased risk of type 2 diabetes; Higher circulating triglycerides; Lower HDL cholesterol levels.
Sample genotype (not yours): C/T
Typical Metabolic Risk and Fat Distribution
Carrying one C and one T allele results in a balanced, typical metabolic profile. Fat distribution and lipid levels generally align with average population baselines.
What this genotype means: Typical fat distribution patterns; Average baseline risk for type 2 diabetes; Standard lipid and liver enzyme levels.
Sample genotype (not yours): T/T
Favorable Fat Storage and Lower Diabetes Risk
Inheriting two copies of the T allele promotes a highly favorable metabolic profile. This genotype protects against type 2 diabetes and supports healthy cholesterol levels.
What this genotype means: Reduced risk of type 2 diabetes; Higher protective HDL cholesterol; Lower circulating triglycerides.
Gene function and biological role
Gene Function: The COBLL1 gene encodes cordon-bleu WH2 repeat protein like 1, which plays a vital role in regulating cell morphology and actin cytoskeleton dynamics. It is highly expressed in adipose tissue and is a key regulator of how the body distributes and stores fat. Genetic variations in this gene influence whether fat is safely stored in subcutaneous depots under the skin or harmfully accumulated as ectopic fat in organs like the liver and pancreas [1]. Consequently, COBLL1 is heavily implicated in metabolic health, insulin sensitivity, and cardiovascular risk profiles [2].
Variant Impact: The variant rs13389219 is located within an intron of the COBLL1 gene and serves as a major genetic marker for fat distribution patterns. This specific genetic change influences the balance between subcutaneous fat storage and ectopic organ fat deposition [1]. The T allele at this locus is a well-documented driver of a metabolically healthy or favorable adiposity phenotype [3]. It allows for efficient subcutaneous fat storage, which paradoxically protects against insulin resistance and metabolic dysfunction despite a higher overall body fat percentage [1].
Key Insight: The T allele paradoxically links a higher overall body fat percentage with a healthier metabolic profile, including lower risks of type 2 diabetes and liver fat accumulation.
Location: COBLL1. Chromosome 2 · 2q24.3 · 164.7 Mb
Estimated prevalence by population
Global 32.7%; European 36.4%; African 7.4%; East Asian 83.1%; South Asian 57.2%; Americas 47.8%; Ashkenazi 41.8%; Finnish 46.5%; Middle Eastern 38.7%; Amish 31.7%.
Estimated CC genotype frequency.
Global 43.2%; European 47.9%; African 39.5%; East Asian 16.1%; South Asian 36.9%; Americas 42.7%; Ashkenazi 45.7%; Finnish 43.4%; Middle Eastern 47.0%; Amish 49.2%.
Estimated CT genotype frequency.
Global 24.1%; European 15.7%; African 53.1%; East Asian 0.8%; South Asian 6.0%; Americas 9.5%; Ashkenazi 12.5%; Finnish 10.1%; Middle Eastern 14.3%; Amish 19.1%.
Estimated TT genotype frequency.
Showing effects for C/C genotype
Cardiovascular & Metabolic
Diabetes & Glycemic Traits
Type 2 Diabetes. Evidence: 10/10. Source: PMID 22885922. ~1.14x Higher Risk.
Lipids & Cholesterol
HDL Cholesterol. Evidence: 10/10. Source: PMID 32203549. Lower Levels.
Triglycerides. Evidence: 10/10. Source: PMID 32154731. Higher Levels.
Obesity & Body Composition
Body Fat Percentage. Evidence: 8/10. Source: PMID 33980691. Lower Percentage.
Organ Systems
Liver Function & Disease
ALT Liver Enzyme. Evidence: 10/10. Source: PMID 33972514. Higher Levels.
Showing effects for C/T genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 22885922. Typical Risk.
HDL Cholesterol. Evidence: 10/10. Source: PMID 32203549. Typical Levels.
Triglycerides. Evidence: 10/10. Source: PMID 32154731. Typical Levels.
Body Fat Percentage. Evidence: 8/10. Source: PMID 33980691. Typical Percentage.
ALT Liver Enzyme. Evidence: 10/10. Source: PMID 33972514. Typical Levels.
Showing effects for T/T genotype
Type 2 Diabetes. Evidence: 10/10. Source: PMID 22885922. Lower Risk.
HDL Cholesterol. Evidence: 10/10. Source: PMID 32203549. Higher Levels.
Triglycerides. Evidence: 10/10. Source: PMID 32154731. Lower Levels.
Body Fat Percentage. Evidence: 8/10. Source: PMID 33980691. Higher Percentage.
ALT Liver Enzyme. Evidence: 10/10. Source: PMID 33972514. Lower Levels.
What this genotype means for the people who carry it
Sample genotype: CC (Homozygous)
Storing fat efficiently in subcutaneous tissue is a key protective mechanism against metabolic disease. This genotype tends to limit subcutaneous storage, causing excess lipids to accumulate as ectopic fat in visceral areas and organs like the liver [1]. Consequently, clinical studies show a consistent association with higher circulating triglycerides and lower HDL cholesterol levels [2]. The risk of developing type 2 diabetes is elevated due to reduced insulin sensitivity from ectopic fat accumulation [3]. Liver enzyme levels, specifically alanine aminotransferase (ALT), also tend to be higher, reflecting increased hepatic fat deposition [1]. Maintaining a balanced diet and engaging in regular physical activity can help mitigate these genetic tendencies by preventing ectopic fat accumulation.
Increased risk of type 2 diabetes; Higher circulating triglycerides; Lower HDL cholesterol levels; Elevated liver enzyme (ALT) levels.
Sample genotype: CT (Heterozygous)
A balanced genetic influence on fat storage defines this intermediate genotype. Subcutaneous and ectopic fat deposition patterns typically fall within the average range for the general population [1]. Metabolic markers, including HDL cholesterol and triglycerides, do not show strong genetic deviations in either direction [2]. The risk of developing type 2 diabetes remains at the standard baseline, influenced primarily by lifestyle factors rather than this specific genetic locus [3]. Liver enzyme levels also reflect typical hepatic function and fat content [1]. Standard health and wellness guidelines, such as eating a nutrient-dense diet and staying active, are highly effective for maintaining metabolic health.
Typical fat distribution patterns; Average baseline risk for type 2 diabetes; Standard lipid and liver enzyme levels.
Sample genotype: TT (Homozygous)
Efficient subcutaneous fat storage characterizes this highly favorable genetic profile. Even with a higher overall body fat percentage, lipids are safely sequestered under the skin rather than accumulating in vital organs [1]. This protective mechanism is strongly associated with lower liver fat and lower alanine aminotransferase (ALT) levels [1]. Clinical data demonstrate significantly higher levels of protective HDL cholesterol and lower circulating triglycerides [2]. The risk of developing type 2 diabetes is notably reduced due to preserved insulin sensitivity [3]. This phenomenon, known as favorable adiposity, highlights that fat distribution is often more critical to metabolic health than total body weight alone [1].
Reduced risk of type 2 diabetes; Higher protective HDL cholesterol; Lower circulating triglycerides; Lower liver fat accumulation.
Variants with shared genetic architecture
rs10184004 · COBLL1 Gene · Chr 2 · Type 2 Diabetes Risk
rs10195252 · COBLL1 Gene · Chr 2 · Body Fat Distribution
rs1128249 · COBLL1 Gene · Chr 2 · Metabolic Health Risk
Content updated August 2026.
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