Development of polyphenotypic scores to prioritize detection of G6PD rs1050828 heterozygotes in African and African American populations

The G6PD missense variant rs1050828 (NP_000393.4:p.Val98Met) is common in African and African American populations. It lowers HbA1c levels independent of glycemia, increasing the risk of underdiagnosis or delayed diagnosis of diabetes. We aimed to develop polyphenotypic scores (PPS) using routinely collected phenotypes to identify likely heteroygotes.