Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.800 CausalMutation CLINVAR Exonuclease TREX1 degrades double-stranded DNA to prevent spontaneous lupus-like inflammatory disease. 25848017

2015
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.800 CausalMutation CLINVAR The cytosolic exonuclease TREX1 inhibits the innate immune response to human immunodeficiency virus type 1. 20871604

2010
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 17293595

2007
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324

2010
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.800 CausalMutation CLINVAR A mutation in TREX1 that impairs susceptibility to granzyme A-mediated cell death underlies familial chilblain lupus. 17440703

2007
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.800 CausalMutation CLINVAR A TREX1 mutation causing cerebral vasculopathy in a patient with familial chilblain lupus. 23989343

2013
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398

2006
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. 18045533

2007
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.800 CausalMutation CLINVAR Heterozygous TREX1 p.Asp18Asn mutation can cause variable neurological symptoms in a family with Aicardi-Goutieres syndrome/familial chilblain lupus. 22829693

2013
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.800 CausalMutation CLINVAR The TREX1 double-stranded DNA degradation activity is defective in dominant mutations associated with autoimmune disease. 18805785

2008
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357

2013
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.800 CausalMutation CLINVAR A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324

2010
dbSNP: rs121908117
rs121908117
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087

2007
dbSNP: rs1416519719
rs1416519719
TREX1 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT

dbSNP: rs1553820434
rs1553820434
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
TG 0.700 CausalMutation CLINVAR

dbSNP: rs1553820518
rs1553820518
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
T 0.700 GeneticVariation CLINVAR A 44-year-old man with eye, kidney, and brain dysfunction. 26691497

2016
dbSNP: rs1553820518
rs1553820518
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
T 0.700 GeneticVariation CLINVAR C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy. 17660820

2007
dbSNP: rs184953805
rs184953805
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.700 CausalMutation CLINVAR A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. 26938784

2016
dbSNP: rs200773268
rs200773268
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.700 GeneticVariation CLINVAR Identification of a pathogenic variant in TREX1 in early-onset cerebral systemic lupus erythematosus by Whole-exome sequencing. 25138095

2014
dbSNP: rs200773268
rs200773268
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.700 GeneticVariation CLINVAR Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study. 24183309

2013
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
A 0.800 CausalMutation CLINVAR Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. 25604658

2015
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. 18045533

2007
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087

2007