rs3749034 and LOC132088794: Understanding Genetic Associations
The rs3749034 variant is a single-nucleotide polymorphism located within the genomic region identified as LOC132088794. It has been identified in genome-wide association studies (GWAS) as having statistical links to intelligence, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorder.
What each genotype means
Common genetic variant profile
This genotype represents the most common form of this variant found in the general population. Research has identified this specific location as a region containing a Neanderthal-derived enhancer, with statistical associations linked to intelligence, ADHD, and autism spectrum disorder in large-scale GWAS studies. Because these associations are based on population-level data, they do not predict individual outcomes or diagnose any condition.
This is the most frequently observed genotype across most global populations.
Common genetic variant profile
Carrying one copy of the T allele places you in a group where this specific genomic region has been statistically associated with traits such as intelligence, ADHD, and autism spectrum disorder. These findings are derived from broad GWAS research and represent small, incremental contributions to complex traits rather than direct causes. Please remember that these associations are limited in strength and do not provide a medical diagnosis.
This heterozygous genotype is found at varying frequencies depending on ancestral background, though it is generally less common than the homozygous CC state.
Common genetic variant profile
This genotype represents the alternative form of this variant, which has been highlighted in GWAS research for its potential role in neurodevelopmental and cognitive traits. Current evidence regarding this association is considered limited, meaning the statistical link is not strong enough to be used for individual health predictions. These results are intended for informational purposes and should not be used to infer personal risk or clinical status.
This genotype is the least common of the three and is observed at low frequencies across most studied populations.
What is rs3749034?
A single-nucleotide polymorphism (SNP) is a variation at a single position in a DNA sequence among individuals. The variant rs3749034 is located in a genomic region designated as LOC132088794. Research indicates that this specific region contains a Neanderthal-derived introgressed genetic variant. This means that the sequence at this location may have entered the human gene pool through ancient interbreeding between modern humans and Neanderthals. Scientists have utilized massively parallel reporter assays (MPRAs) in laboratory cell lines to validate that this region functions as an enhancer, a type of regulatory element that can increase the likelihood of transcription of particular genes. Because it is an enhancer, the variant may influence how nearby genes are expressed rather than changing the structure of a protein directly.
Understanding the LOC132088794 Region
The LOC132088794 identifier refers to a specific locus in the human genome. In genomics, such identifiers are often assigned to regions that have been identified as functional or biologically significant but may not yet be fully characterized as a traditional protein-coding gene. The presence of an enhancer within this region suggests that it plays a role in gene regulation. Enhancers are critical components of the genome because they act as switches, turning genes on or off in specific tissues or at specific times during development. By studying these regions, researchers aim to understand how non-coding DNA contributes to complex human traits. While the exact target genes regulated by this enhancer are still being investigated, its classification as an introgressed Neanderthal element highlights the complex evolutionary history of the human genome.
GWAS Associations and Evidence Strength
Genome-wide association studies (GWAS) are large-scale research projects that scan the genomes of many people to find variants associated with specific traits or diseases. The variant rs3749034 has appeared in GWAS data linked to intelligence, ADHD, and autism spectrum disorder. It is important to note that these associations are statistical in nature, meaning they show a correlation between the presence of the variant and the trait in a population, rather than a direct cause-and-effect relationship. The evidence strength for these associations is currently considered limited. GWAS results often identify many variants with small individual effects, and these findings require replication across diverse populations to confirm their biological relevance. Because the evidence is limited, these findings should be viewed as preliminary insights into the genetic architecture of these complex, polygenic traits rather than diagnostic markers.
Population Frequency and Interpretation
Information regarding the specific population frequency of rs3749034 is not widely documented in standard public databases. Genetic variants often vary significantly in frequency across different ancestral groups due to evolutionary history, migration, and genetic drift. Because this variant is linked to an introgressed Neanderthal sequence, its distribution may be uneven across global populations. When interpreting genetic data, it is essential to remember that complex traits like intelligence or neurodevelopmental conditions are influenced by thousands of genetic variants, as well as environmental and lifestyle factors. A single SNP like rs3749034 typically accounts for only a tiny fraction of the variation in these traits. Consequently, this information cannot be used to predict individual outcomes or diagnose any condition. Genetic data should always be interpreted in the context of a comprehensive clinical evaluation by a qualified healthcare professional.
How common is this variant?
Specific population frequency data for rs3749034 is not currently specified in major public genomic databases.
Frequently asked questions
Can I use this variant to predict if I have ADHD or autism?
No. Genetic associations found in GWAS are statistical correlations across large groups and cannot be used to diagnose individuals. Neurodevelopmental conditions are complex and influenced by many genetic and environmental factors.
What does it mean that this variant is 'Neanderthal introgressed'?
It means that this specific segment of DNA was likely inherited from Neanderthals through ancient interbreeding. Such variants are common in modern human populations and are part of our evolutionary history.
Is rs3749034 a 'gene'?
No, rs3749034 is a single-nucleotide polymorphism (SNP), which is a variation at a single point in the DNA. It is located within a genomic region labeled LOC132088794, which functions as a regulatory enhancer.
Where can I find more information about my own genetic data?
If you have questions about your genetic results, you should consult with a genetic counselor or a healthcare provider. They can help you interpret your data in the context of your personal and family medical history.
Sources & further reading
Educational information only, last refreshed 9/14/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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