rs60554162
A SNP in the LOC107984511 gene on chromosome 12. Its most notable genotype is T;T: homozygote for pachyonyitia congenita Type I mutation
- Gene
- LOC107984511
- Location
- Chr 1252,488,338 (GRCh38)
- Highest magnitude
- 3.0Important
- Tested on
- 23andMe, AncestryDNA
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
- T;TMost notableNot ratedhomozygote for pachyonyitia congenita Type I mutation
- C;TNot ratedheterozygote for pachyonychia congenita Type I mutation
- C;CGoodnormal
SNPedia records rs60554162 on the minus strand: (A;A), (A;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
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 148041.0003
Source and license
Adapted from rs60554162 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.