Using available data from 1000GENOMES:phase_3_FIN confirmed that the rs2948694 has a higher minor allele frequency in the Finnish in Finland subpopulation (22 percent) compared with the European (11 percent) and was further found to capture 11 percent of alleles across the GHSR gene at r2 ≥ 0.8 using the Haploview Tagger function. Submitting the GHSR gene to the online alternative splice site predictor tool (http://wangcomputing.com/assp) predicted 39 sites as confident (≥ 0.9) putative splice sites and one of these sites included the rs2948694 as a cryptic donor alternative splice site. The G‐allele of the SNP was found to increase the confidence score of this splice site prediction. We further explored the possible association between rs2948694 and GHSR expression using the publicly available BrainCloud (Colantuoni et al. 2011), an application consisting of post‐mortem human brains collected at ages from fetal development to senescence (n = 269). Expression of GHSR in prefrontal cortex was analyzed against a proxy SNP for rs2948694 (not genotyped in this sample), namely rs16845548 (1000GENOMES:phase_3_FIN; distance = 20137 bp, r2 = 1.0, D′ = 1.0), in a linear
