rs397515360

A SNP in the CNGB3 gene on chromosome 8. Its most notable genotype is -;-: Achromatopsia

Gene
CNGB3
Location
Chr 886,643,781 (GRCh38)
Highest magnitude
5.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. -;-Most notableBadAchromatopsiaVery important · 5.0
  2. -;GBadCarrier of an achromatopsia mutationImportant · 3.0
  3. G;GGoodcommon in clinvarTypical · 0.0

SNPedia records rs397515360 on the minus strand: (-;-), (-;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Other CNGB3 SNPs

All CNGB3 SNPs

Notes

From SNPedia

Notes

rs397515360, also known as c.1148delC or p.Thr383IlefsX13, represents a rare mutation in the CNGB3 gene on chromosome 8. Inherited recessively, the rs397515360(-) deletion allele is considered in ClinVar (and BabySeq) to be pathogenic for achromatopsia. 23andMe name: i5012559

-;-

see rs397515360

-;G

Unaffected unless carrying a second CNBG3 gene mutation; see rs397515360

Source and license

Adapted from rs397515360 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.