rs199474818

A SNP in the COX1 gene on chromosome MT. Its most notable genotype is A;G: Palmoplantar keratoderma with deafness

Gene
COX1
Location
Chr MT7,445 (GRCh38)
Highest magnitude
6.0Very important
Tested on
Not on consumer chips

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AGoodcommon in clinvarTypical · 0.0
  2. A;GMost notableBadPalmoplantar keratoderma with deafnessVery important · 6.0

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

Other COX1 SNPs

All COX1 SNPs

Notes

From SNPedia

Notes

A;G

see discussion at Keratoderma_palmoplantar_deafness

Source and license

Adapted from rs199474818 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.