rs28933087

A SNP in the LOC107984511 gene on chromosome 12. Its most notable genotype is C;C: homozygote for pachyonychia congenita Type I mutation

Gene
LOC107984511
Location
Chr 1252,492,669 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TNot ratedNo summary available.Typical · 0.0
  2. C;CMost notableNot ratedhomozygote for pachyonychia congenita Type I mutationImportant · 3.0
  3. A;CNot ratedheterozygote for pachyonychia congenita Type I mutationImportant · 3.0
  4. A;AGoodnormalTypical · 0.0

SNPedia records rs28933087 on the minus strand: (A;A), (G;G), (G;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other LOC107984511 SNPs

All LOC107984511 SNPs

Notes

From SNPedia

Notes

This SNP has been found in patients with pachyonychia congenita Type I, and the risk allele appears to be a causative mutation for this (dominant) disorder. See also: OMIM 148041.0002

Source and license

Adapted from rs28933087 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.