Variant: rs1057517980 

    present in Gene: PTCHD1-AS;PHEX
    present in Chromosome: X
    Position on Chromosome: 22219071
    Alleles of this Variant: G/A;T

rs1057517980 in PTCHD1-AS;PHEX gene and Hypophosphatemic Rickets, X-Linked Dominant PMID 11004247 2000 Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.

PMID 9106524 1997 Mutational analysis of the PEX gene in patients with X-linked hypophosphatemic rickets.

PMID 9199930 1997 Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.

PMID 9768646 1998 A PHEX gene mutation is responsible for adult-onset vitamin D-resistant hypophosphatemic osteomalacia: evidence that the disorder is not a distinct entity from X-linked hypophosphatemic rickets.

PMID 10737991 2000 Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.

PMID 9097956 1997 Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).

PMID 9768674 1998 Mutational analysis of PHEX gene in X-linked hypophosphatemia.

PMID 10439971 1999 Non-random distribution of mutations in the PHEX gene, and under-detected missense mutations at non-conserved residues.