rs59328451
A SNP in the KRT16 gene on chromosome 17. Its most notable genotype is A;T: heterozygote for pachyonychia congenita Type I mutation
- Gene
- KRT16
- Location
- Chr 1741,610,549 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TGoodnormal
- A;TMost notableNot ratedheterozygote for pachyonychia congenita Type I mutation
- A;ANot ratedhomozygote for pachyonychia congenita Type I mutation
SNPedia records rs59328451 on the minus strand: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other KRT16 SNPs
- rs28928894G;Ghomozygote for pachyonychia congenita Type I mutationImportant
- rs28928895A;Theterozygote for pachyonychia congenita Type I mutationImportant
- rs57424749G;Ghomozygote for pachyonychia congenita Type I mutationImportant
- rs58293603C;Chomozygote for pachyonychia congenita Type I mutationImportant
- rs59349773G;Theterozygote for pachyonychia congenita Type I mutationImportant
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 148067.0008
Source and license
Adapted from rs59328451 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.