rs132630267

A SNP in the CHM gene on chromosome X. Its most notable genotype is T;T: risk of Choroideremia

Gene
CHM
Location
Chr X85,894,201 (GRCh38)
Highest magnitude
4.0Very important
Tested on
AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadrisk of ChoroideremiaVery important · 4.0
  2. G;TBadChoroideremiaVery important · 4.0
  3. G;GGoodcommon in clinvarTypical · 0.0

SNPedia records rs132630267 on the minus strand: (A;A), (A;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other CHM SNPs

All CHM SNPs

Notes

From SNPedia

Notes

aka c.1497C>A (p.Cys499Ter)

T;T

Choroideremia

G;T

Choroideremia : Women would be a carrier, men would be affected

Source and license

Adapted from rs132630267 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.