Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893769
rs104893769
RHO
0.010 GeneticVariation BEFREE The cone-enriched apoptotic protease <i>caspase-7</i> (<i>Casp7</i>) is thought to be triggered by endoplasmic reticulum (ER) stress and plays a pivotal role in mice deficient in the cone cyclic nucleotide-gated channels, a deficiency that causes achromatopsia in humans and in mice with autosomal dominant rhodopsin mutations, in particular the T17M mutation. 29296074

2017