Table 1.

ALPL Variants Identified Among Patients Included as Cases

SNP	rsID	Molecular Consequence	Previously Reported Phenotype	Carrier Count	MAFa
exm28129	rs199669988	c.529G > A	Adultb	2	0.01
exm28131	rs121918007	c.571G > A	Adult, childhood, infantilec	74	0.02
exm28158	rs121918002	c.881A > C	Adult, childhood, infantilec	29	<0.01

Three known ALPL SNPs were identified in 105 patients of the 25,822 in the BioVU cohort. All variants in this study were ultimately associated with an HPP phenotype upon review of their de-identified records. All of these variants were missense mutations.

Abbreviations: MAF, minor allele frequency, the frequency of the second-most common allele in a given population to differentiate between common and rare variants; rsID, accession number assigned to refer to specific SNPs.

^aHighest minor allele frequency (MAF) observed in any population from 1000 genomes, Phase 3, Exome Sequencing Project, and Exome Aggregation Consortium. Genome Reference Consortium Human genome build 37.

^bMornet (27).

^cLandrum et al. (28).