Of the four variants that showed evidence of heterogeneity only according to PR, rs10759243[6, 35], rs11199914[36] and rs72749841[6] were previously found primarily associated with risk of ER-positive disease, and rs10816625 was found to be associated with risk of ER-positive/PR-positive tumors, but not other ER/PR combinations[12]. Here, ESR1 is linked to glycogen storage disease VI.