rs28936701

A SNP in the CYP1B1 gene on chromosome 2. Its most notable genotype is A;G: Carrier of a primary congenital glaucoma mutation

Gene
CYP1B1
Location
Chr 238,070,949 (GRCh38)
Highest magnitude
3.0Important
Tested on
23andMe, AncestryDNA

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. G;GGoodcommon in clinvarTypical · 0.099% of people
  2. A;GMost notableBadCarrier of a primary congenital glaucoma mutationImportant · 3.0<1% of people
  3. C;CNot ratedNo summary available.Typical · 0.00% of people

SNPedia records rs28936701 on the minus strand: (C;C), (C;T), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in one HapMap population.

  • Luhya (Kenya)G;G 99% A;G <1% C;C 0%

Notes

From SNPedia

Notes

aka c.1405C>T (p.Arg469Trp or R469W)

A;G

Unaffected in absence of a second CYP1B1 gene mutation

Source and license

Adapted from rs28936701 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.