rs74315329
A SNP in the MYOC gene on chromosome 1. Its most notable genotype is A;G: Primary open-angle glaucoma
- Gene
- MYOC
- Location
- Chr 1171,636,338 (GRCh38)
- Highest magnitude
- 4.8Very important
- Tested on
- AncestryDNA
- Minor allele frequency
- <1%
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs74315329 on the minus strand: (C;C), (C;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other MYOC SNPs
- rs28936694A;CPrimary open-angle glaucomaVery important
- rs74315328A;GPrimary open-angle glaucomaVery important
- rs74315330A;GPrimary open-angle glaucomaVery important
- rs74315331A;TPrimary open-angle glaucomaVery important
- rs74315332G;TPrimary open-angle glaucomaVery important
- rs74315334C;TPrimary open-angle glaucomaVery important
- rs74315335C;TPrimary open-angle glaucomaVery important
- rs74315336C;TPrimary open-angle glaucomaVery important
Notes
From SNPedia
Show notes, about 150 words
rs74315329, also known as Q168X and Gln368Ter, is a nonsense mutation in the MYOC gene on chromosome 1. 23andMe name: i5007108 The rs74315329(T) allele (in dbSNP orientation) has been reported to be a pathogenic autosomal dominant mutation leading to primary open angle glaucoma with either early-onset or juvenile onset.ClinVar However, other reports indicate that inheritance does not follow a simple dominant model (), and full sequencing has incidentally uncovered several adults who harbor this mutation yet who lack a significant family history and also do not show show signs of glaucoma, at least at the time of examination. The penetrance of the variant varies in different scenarios. A polygenic risk score influencing the likelihood of glaucoma progression in Q168X carriers (and possibly others) was published in 2020.
A;G
Pathogenic in ClinVar; see sidebar on main SNP page.
Source and license
Adapted from rs74315329 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 Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice.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.