CBLN4 rs186466996: what the research says
This variant was identified as a genome-wide significant locus associated with inherited retinal disease in a recent recessive GWAS model.
What each genotype means
Typical genetic profile
This genotype represents the most common form of this variant found in the general population. Research indicates this version of the gene is not associated with the increased risk for inherited retinal disease identified in recent studies.
This is the most frequent genotype, carried by the vast majority of individuals across global populations.
Heterozygous carrier status
You carry one copy of the variant associated with inherited retinal disease in recessive GWAS models. Because this condition typically follows a recessive inheritance pattern, carrying a single copy is generally not expected to manifest the trait, though research into the specific functional impact of this variant is ongoing.
This genotype is relatively rare, occurring at a frequency consistent with the reported population prevalence of approximately 0.000588 for the minor allele.
Increased risk association
This genotype consists of two copies of the variant identified in genome-wide association studies as being linked to inherited retinal disease. While this association is statistically significant, it is important to remember that genetic associations are not diagnostic; please consult with a medical professional or genetic counselor to discuss what this means for your health.
This genotype is very rare, reflecting the low frequency of the minor allele in the general population.
0.000588
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