Variant: rs142181517 

    present in Gene: PHYKPL
    present in Chromosome: 5
    Position on Chromosome: 178211964
    Alleles of this Variant: T/A

rs142181517 in PHYKPL gene and Phosphohydroxylysinuria PMID 23242558 2013 Mutations in the AGXT2L2 gene cause phosphohydroxylysinuria.