rs28937873

A SNP in the NR2E3 gene on chromosome 15. Its most notable genotype is A;G: Carrier of a mutation associated with enhanced S-cone syndrome and Goldmann-Favre syndrome

Gene
NR2E3
Location
Chr 1571,813,573 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;GMost notableBadCarrier of a mutation associated with enhanced S-cone syndrome and Goldmann-Favre syndromeImportant · 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.932G>A (p.Arg311Gln or R311Q)

A;G

Unaffected in absence of a second NR2E3 gene mutation

Source and license

Adapted from rs28937873 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.