WDR12 rs11030104: What Your Genotype Means

What each genotype means

What rs11030104 is and where it sits

A single-nucleotide polymorphism, or SNP, is a one-letter difference in DNA that can be present among people in a population. rs11030104 is the reference SNP identifier assigned to one such position by dbSNP. The variant is located in the genomic region containing WDR12, a gene on chromosome 2; available variant annotations place it in a noncoding, intronic portion of the gene rather than in the protein-coding sequence. The two alleles commonly represented for this SNP are G and A. Because DNA is read from a specified strand and genome assemblies can use different reference orientations, allele letters should always be checked against the database or laboratory report being used. A genotype describes the two copies inherited by a person: GG, GA, or AA. An intronic SNP does not automatically have no biological effect. It could be linked to a functional change elsewhere in the region, influence gene regulation, or simply be inherited alongside the truly relevant variant. At present, the most established public interpretation of rs11030104 is its population-level association with coronary artery disease in GWAS, not a proven molecular mechanism.

What the WDR12 gene does

WDR12 encodes a WD-repeat-containing protein involved in cellular ribosome biogenesis. Ribosomes are the molecular machines that make proteins, and ribosome production is especially important in cells that are growing, dividing, or maintaining high levels of protein synthesis. Research on WDR12 has connected the protein with the PeBoW ribosome-biogenesis complex, which participates in processing ribosomal RNA and assembling ribosomal subunits. That cellular role provides a plausible reason for researchers to investigate WDR12 in cardiovascular disease, but biological plausibility is not the same as proof that rs11030104 causes coronary artery disease. The SNP is noncoding, so it does not change an amino acid in the WDR12 protein. Its association could reflect regulation of WDR12, an effect on a nearby gene, or linkage disequilibrium—the tendency for nearby DNA variants to be inherited together. A gene’s involvement in a cellular pathway also does not mean that a person’s genotype can be used to measure WDR12 activity. No routine clinical interpretation for rs11030104 establishes that a particular genotype causes abnormal ribosome production or independently predicts an individual’s outcome.

What studies associate it with

The GWAS Catalog and published association studies have reported rs11030104 in connection with coronary artery disease or related coronary-risk analyses. In this context, “associated” means that allele or genotype frequencies differed between people with and without the studied condition, or that the variant tracked statistically with a measured disease-risk phenotype. It does not mean that the SNP was shown to cause disease. The catalog record describes the evidence strength as moderate, which is consistent with a signal that has been observed in research but does not have the certainty or clinical utility required for diagnosis. GWAS findings can be affected by ancestry, sample size, study design, environmental exposures, and nearby correlated variants. Associations may also be weaker, absent, or differently estimated in populations not well represented in the original studies. Published research has generally treated rs11030104 as one marker among many. Coronary artery disease is influenced by numerous genetic variants as well as blood pressure, lipid levels, diabetes, smoking, age, and other factors. A single SNP therefore contributes, at most, a small part of a much larger risk picture.

How common the variant is

The catalog classifies rs11030104 as common, meaning that both alleles are observed at appreciable frequencies in human populations rather than being a rare sequence change. The exact frequency depends on the population, ancestry grouping, database release, genome build, and allele orientation used by the source. gnomAD and dbSNP are appropriate resources for checking population-specific allele counts and frequencies. A common variant can have common genotypes, including GG, GA, and AA, but the three genotypes will not necessarily occur at equal rates. Their frequencies differ among ancestry groups because human populations have different histories of migration, genetic drift, and admixture. A frequency observed in one population should not automatically be treated as the expected frequency for another. The available public record supports describing rs11030104 as common, but that label does not establish that its coronary association is equally strong in every ancestry group. Researchers continue to evaluate whether GWAS signals replicate consistently across populations and whether the variant itself, rather than a correlated marker, is responsible for the observed signal.

What a reader can and cannot do with this information

A consumer genetic result for rs11030104 can tell someone which allele pair was reported by the testing laboratory. It may also help researchers or genetic counselors place one small inherited signal into a broader risk assessment. On its own, however, the result cannot diagnose coronary artery disease, predict when disease might occur, or show whether a person has blocked coronary arteries. The association is statistical and applies to groups of people. It does not mean that every person carrying a risk-associated allele will develop disease, nor that someone without that allele is protected. A result may also be difficult to interpret if the laboratory uses a different strand orientation, tests a nearby proxy marker, or provides a risk estimate based on a population that does not match the reader’s ancestry. People should not use this SNP to start, stop, or change medicines. Any health concern or genetic result should be discussed with a qualified clinician or genetic counselor, who can consider established clinical measurements and family history. For heart disease, those factors generally provide more actionable information than one common SNP.

Frequently asked questions

Sources & further reading

Related variants in WDR12