Variant: rs869312953 

    present in Gene: JAK1
    present in Chromosome: 1
    Position on Chromosome: 64846735
    Alleles of this Variant: G/T

rs869312953 in JAK1 gene and Acute lymphoblastic leukemia with lymphomatous features PMID 20167706 2010 ALL-associated JAK1 mutations confer hypersensitivity to the antiproliferative effect of type I interferon.

rs869312953 in JAK1 gene and Multiple congenital anomalies PMID 25356970 2015 Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.