BLID rs577948: what the research says
This variant at chromosome 11q24.1 is associated with an increased risk of pathological myopia in Japanese populations.
What each genotype means
Lower risk profile
This genotype does not carry the risk allele associated with pathological myopia in certain Japanese studies. Research indicates that the association between this variant and myopia is inconsistent across different populations, and no increased risk is typically attributed to this specific combination.
This genotype is common, as the G allele has a global minor allele frequency of approximately 0.36.
Intermediate risk profile
Carrying one copy of the G allele has been associated with a statistically higher risk of pathological myopia in some Japanese cohorts. However, this association has not been replicated in all populations, such as in studies of Chinese ancestry, suggesting that the impact of this genotype may be highly dependent on your specific genetic background.
This heterozygous genotype is frequently observed in East Asian populations where the G allele is common.
Increased risk profile
This genotype is associated with an increased risk of pathological myopia in specific Japanese populations, with an odds ratio reported in some studies around 1.37. Because this association is not universal and has not been consistently observed in other ethnic groups, it should be viewed as a potential risk factor rather than a definitive diagnostic indicator.
This genotype is common in East Asian populations, consistent with the reported global minor allele frequency of approximately 0.36 for the G allele.
Common in East Asian populations
Curious what your genotype is for rs577948?
Upload a raw DNA file from 23andMe, AncestryDNA, MyHeritage, or FamilyTreeDNA and see this variant — plus thousands more — interpreted in your full report.
Get my report — $29