rs104893619

A SNP in the CNGA3 gene on chromosome 2. Its most notable genotype is A;G: Carrier of an achromatopsia 2 mutation

Gene
CNGA3
Location
Chr 298,396,755 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of an achromatopsia 2 mutationImportant · 3.0
  2. G;GGoodcommon in clinvarTypical · 0.0

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

Notes

From SNPedia

Notes

aka c.1585G>A (p.Val529Met or V529M) OMIM cites a publication indicating this is a recurrent mutation stratified by a Jewish-Muslim founder effect.

A;G

Unaffected in absence of a second mutation in the CNGA3 gene

Source and license

Adapted from rs104893619 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.