Variant: rs1085307649 

    present in Gene: STAT1
    present in Chromosome: 2
    Position on Chromosome: 190995129
    Alleles of this Variant: G/T

rs1085307649 in STAT1 gene and CANDIDIASIS, FAMILIAL, 7 PMID 27114460 2016 Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

rs1085307649 in STAT1 gene and IMMUNODEFICIENCY 31A PMID 27114460 2016 Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

rs1085307649 in STAT1 gene and IMMUNODEFICIENCY 31B PMID 27114460 2016 Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.