Variant: rs1449857485 

    present in Gene: ZNF627;ACP5
    present in Chromosome: 19
    Position on Chromosome: 11575204
    Alleles of this Variant: T/G

rs1449857485 in ZNF627;ACP5 gene and SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION PMID 21217752 2011 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.

PMID 21217755 2011 Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.