Variant: rs587776856 

    present in Gene: IFNGR1
    present in Chromosome: 6
    Position on Chromosome: 137200920
    Alleles of this Variant: AATT/-

rs587776856 in IFNGR1 gene and IFN-gamma Receptor 1 Deficiency PMID 18171304 2008 Infections due to various atypical mycobacteria in a Norwegian multiplex family with dominant interferon-gamma receptor deficiency.

PMID 11583830 2001 Multifocal osteomyelitis caused by nontuberculous mycobacteria in patients with a genetic defect of the interferon-gamma receptor.

PMID 10192386 1999 A human IFNGR1 small deletion hotspot associated with dominant susceptibility to mycobacterial infection.

PMID 20015550 2010 Functional analysis of naturally occurring amino acid substitutions in human IFN-gammaR1.