rs17612858

A SNP in the HLA-DQA1 gene on chromosome 6. Its most notable genotype is T;T: highest risk (~5x higher) for podoconiosis

Gene
HLA-DQA1
Location
Chr 632,652,845 (GRCh38)
Highest magnitude
3.0Important
Tested on
Not on consumer chips
Minor allele frequency
47%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodlowest risk of PodoconiosisTypical · 0.0
  2. A;TBadhigher risk (~2x) for podoconiosisWorth knowing · 2.0
  3. T;TMost notableBadhighest risk (~5x higher) for podoconiosisImportant · 3.0

On SNPedia: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Notes

From SNPedia

Show notes, about 180 words

rs17612858 represents a variant near the HLA-DQA1 gene, located on chromosome 6. A relatively small genomewide association study (~200 patients followed by validation) of southern Ethiopians concluded that the rs17612858(T) allele significantly increases risk for podoconiosis, a tropical lymphedema resulting from long-term barefoot exposure to red-clay volcanic soil. Compared to the major (A;A) homozygote, the odds ratio was 1.7 (CI: 1 - 2.7) for (A;T) heterozygotes and 4.6 (CI: 2.6 - 8) for (T;T) minor allele homozygotes.

A;A

a neglected tropical disease which causes elephantitis when exposed to volcanic soils

A;T

see discussion at rs17612858

T;T

The presence of the minor allele (T) of this SNP was associated with an increased risk of susceptibility to podoconiosis substantially (odds ratio, 2.44 in the allelic model and 2.19 in the additive model). This is a neglected tropical disease which causes elephantiasis when exposed to volcanic soil. An estimated one-fifth of Ethiopians carry this genotype, increasing their risk for this debilitating disease. http://www.genome.gov/27558535

References

Source and license

Adapted from rs17612858 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.