Variant: rs1057517365 

    present in Gene: TCIRG1
    present in Chromosome: 11
    Position on Chromosome: 68048883
    Alleles of this Variant: G/A

rs1057517365 in TCIRG1 gene and Osteopetrosis, Autosomal Recessive 1 PMID 25829125 2015 Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis.