rs9282671

A SNP in the CYP1B1 gene on chromosome 2. Its most notable genotype is T;T: small chance of slightly increasing risk for a form of glaucoma

Gene
CYP1B1
Location
Chr 238,075,148 (GRCh38)
Highest magnitude
1.5Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
<1%

Genotypes

Plus strand, as in 23andMe and AncestryDNA files.

  1. T;TMost notableBadsmall chance of slightly increasing risk for a form of glaucomaMinor · 1.5
  2. A;TBadsmall chance of slightly increasing risk for a form of glaucomaMinor · 1.5
  3. A;AGoodcommon in complete genomicsTypical · 0.0

SNPedia records rs9282671 on the minus strand: (A;A), (A;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other CYP1B1 SNPs

All CYP1B1 SNPs

Notes

From SNPedia

Show notes, about 210 words

rs9282671, also known as c.241T>A, p.Tyr81Asn and Y81N, is a variant in the CYP1B1 gene on chromosome 2. The minor allele for this variant, rs9282671(A), was originally reported in 2004 as being an autosomal dominant mutation associated with adult-onset primary open angle glaucoma (POAG). Note that POAG is typically considered a disorder that is recessively inherited, and that the age of onset is known to be quite variable even for a given single mutation. A functional study in 2008 concluded that this mutation (the Y81N variant) should be considered a hypomorphic allele rather than a mutation, since the enzymatic activity of corresponding protein was in between that of a classic CYP1B1 mutant and that of a normal protein. More recently, the variant has been categorized as benign in ClinVar. In ExAC, it is clearly a rare variant, with an average minor allele frequency of 0.006, but showing the highest frequency in Finnish European populations (0.04). Overall, the significance of this variant is unclear. A person carrying one or more minor rs9282671 alleles may wish to bring this to the attention of relevant health-care providers, but it could well be medically unimportant.

T;T

see discussion at rs9282671

A;T

see discussion at rs9282671

Source and license

Adapted from rs9282671 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.