Variant: rs121908248 

    present in Gene: ENPP1
    present in Chromosome: 6
    Position on Chromosome: 131860388
    Alleles of this Variant: G/C;T

rs121908248 in ENPP1 gene and Hypophosphatemic Rickets, Autosomal Recessive, 2 PMID 25741938 2015 Early onset hearing loss in autosomal recessive hypophosphatemic rickets caused by loss of function mutation in ENPP1.

PMID 20137772 2010 Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene.

PMID 20137773 2010 Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets.