Variant: rs387906668

present in Gene: ACP5;ZNF627 present in Chromosome: 19 Position on Chromosome: 11576839 Alleles of this Variant: G/A

rs387906668 in ACP5;ZNF627 gene and SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION PMID 21217755 2011 Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature.

PMID 21217752 2011 Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity.