ARSDP1 rs112707890: What Your Genotype Means
The genetic variant rs112707890, also known as P30, is a specific mutation located on the Y chromosome. It serves as a reliable indicator for identifying the I1 subclade of the Y-DNA haplogroup I, which is primarily found in Northern European populations.
What each genotype means
Haplogroup I1 carrier
This genotype indicates that you carry the P30 mutation, which is a defining marker for the I1 subclade of Y-DNA haplogroup I. This result is specific to your direct paternal lineage and does not provide information about your overall health or medical risks.
This genotype is found specifically in men belonging to the I1 Y-DNA haplogroup, which is most common in populations of Scandinavian, British, Irish, and Northern European ancestry.
Ancestral Y-DNA lineage
This genotype represents the ancestral state for this marker, meaning you do not carry the P30 mutation associated with the I1 subclade of Y-DNA haplogroup I. This result reflects your direct paternal lineage and has no known impact on your health or medical profile.
This is the ancestral allele and is found in men who do not belong to the I1 subclade of Y-DNA haplogroup I.
Heterozygous Y-DNA marker
Because this variant is located on the Y chromosome, which is typically present as a single copy in males, a heterozygous result is generally not expected in standard testing. Please verify this result with your testing provider, as it may indicate a technical artifact or a complex structural variation in your paternal lineage.
This genotype is not typically observed in standard Y-DNA testing as the Y chromosome is haploid in males.
Understanding the Variant
The variant rs112707890 is a single-nucleotide polymorphism (SNP) located on the Y chromosome. In the context of genetic genealogy, SNPs are stable markers that are passed down from father to son with very few changes over thousands of years. Because the Y chromosome does not undergo recombination like other chromosomes, these markers act as a historical record of paternal lineages. The rs112707890 variant is specifically recognized as a defining marker for the I1 haplogroup. By identifying whether an individual carries the ancestral or derived version of this SNP, researchers can determine if a person belongs to this specific branch of the human Y-chromosome phylogenetic tree.
The Role of the ARSDP1 Gene
The rs112707890 variant is associated with the ARSDP1 gene region on the Y chromosome. It is important to note that in the context of Y-DNA haplogroup testing, the primary utility of this SNP is as a genealogical marker rather than a functional gene that influences health or physical traits. Y-DNA haplogroups are defined by these specific mutations, which help map the migration and history of human populations. While the ARSDP1 gene is the genomic location for this marker, the variant itself is used by geneticists and genealogists to trace paternal ancestry. It does not provide information regarding medical conditions, disease risk, or drug responses.
Research and Evidence Strength
The evidence linking rs112707890 to the I1 haplogroup is well-established within the field of genetic genealogy. Research published in databases such as SNPedia and supported by phylogenetic studies confirms that this variant is a reliable indicator for the I1 subclade. However, the evidence strength for this variant in a clinical or medical context is limited, as it is not a marker used for diagnosing health conditions. Its significance is strictly limited to ancestral mapping. Because it is a Y-chromosome marker, it is only relevant for individuals who possess a Y chromosome and is used to trace direct paternal lines, making it a specialized tool for genealogical research rather than clinical diagnostics.
Population Frequency and Distribution
The rs112707890 variant is specific to the Y-DNA haplogroup I1. This haplogroup is most frequently observed in Northern European populations, with high concentrations in Scandinavia and surrounding regions. Because it is a lineage-defining marker, its frequency is not distributed evenly across the global population but is instead concentrated among men who share a common paternal ancestor within the I1 branch. The presence of this variant is a direct indicator of this specific ancestral lineage. It is not a common variant in the general sense of population-wide genetic diversity, but rather a specific marker that identifies a particular subset of the male population with shared Northern European paternal roots.
Interpreting Your Results
If you have received results for rs112707890, it is important to understand that this information is intended for genealogical exploration. You can use this data to better understand your paternal heritage and how your lineage fits into the broader history of human migration. However, you cannot use this information to make medical decisions or to predict health outcomes. This variant is not associated with any known disease risks or medication responses. If you have questions about your health or genetic predispositions, you should consult with a qualified healthcare provider or a genetic counselor. Always remember that genealogical DNA testing is a tool for historical discovery and should not be used as a substitute for professional medical advice.
How common is this variant?
This variant is specific to the Y-DNA haplogroup I1, which is found primarily in Northern European populations.
Frequently asked questions
What does it mean to be P30 positive?
Being P30 positive means you carry the derived allele for the rs112707890 variant. This confirms your placement within the I1 subclade of the Y-DNA haplogroup I.
Can this variant tell me if I have a disease?
No, this variant is a genealogical marker used to trace paternal ancestry. It has no known association with medical conditions or disease risks.
Is rs112707890 the same as I-M253?
Yes, rs112707890 is associated with the I1 haplogroup, which is also commonly referred to as I-M253. These markers are used to identify the same paternal lineage.
Why is this variant only found in men?
This variant is located on the Y chromosome, which is only present in biological males. Therefore, it is only used to trace direct paternal lines.
Sources & further reading
Educational information only, last refreshed 9/24/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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