rs140256288

A SNP in the KCNV2 gene on chromosome 9. Its most notable genotype is G;T: Carrier of a retinal cone dystrophy 3B mutation

Gene
KCNV2
Location
Chr 92,718,181 (GRCh38)
Highest magnitude
3.0Important
Tested on
AncestryDNA

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.0
  2. G;TMost notableBadCarrier of a retinal cone dystrophy 3B mutationImportant · 3.0

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

Notes

From SNPedia

Notes

aka c.442G>T (p.Glu148Ter or E148X), and also c.442G>A; the former is considered pathogenic, the latter, likely to be benign.

G;T

Unaffected in absence of a second KCNV2 gene mutation

Source and license

Adapted from rs140256288 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.