Of these compound heterozygotes with allele specific expression, rs10895991 is of particular interest as it contains a damaging SNV on the preferentially expressed maternal allele in the CAPN1 gene and also contains two SNVs which are eQTLs for this gene and score as Category 1a (likely to affect binding and linked to expression of a gene target). The CAPN1 gene codes for a calcium-sensitive cysteine protease present in brain synapses, the inhibition of which has been shown to be protective against Alzheimer's disease (Trinchese et al. 2008). Thus, the CAPN1 gene is likely to be a hypomorph in this individual relative to others. This demonstrates the power of combining regulatory information with coding information in annotating personal genomes.
