Variant: rs760594164 

    present in Gene: ATRIP;ATRIP-TREX1;TREX1
    present in Chromosome: 3
    Position on Chromosome: 48466947
    Alleles of this Variant: -/A

rs760594164 in ATRIP;ATRIP-TREX1;TREX1 gene and AICARDI-GOUTIERES SYNDROME 1 PMID 23602593 2013 A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain.

PMID 24183309 2013 Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study.