rs4656461
rs4656461 is an intronic variant near TMCO1 on chromosome 1q24. TMCO1 encodes a transmembrane, coiled-coil ER/Golgi/mitochondrial protein enriched in the trabecular meshwork, ciliary body, lamina cribrosa, and retinal ganglion cells, where it regulates calcium homeostasis and cell survival; the risk allele at this locus is associated with elevated intraocular pressure and increased risk of primary open-angle glaucoma (POAG) across multiple GWAS and populations. In this dataset it contributes, alongside CDKN2B-AS1 rs4977756 and SIX1/6 rs10483727, to a polygenic glaucoma risk score — a risk estimate, not a diagnosis.
Traits rs4656461 reads
Gene
Reference databases
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