Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
G 0.700 CausalMutation CLINVAR Clinical impact of a targeted next-generation sequencing gene panel for autoinflammation and vasculitis. 28750028

2017
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: 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: rs74689946
rs74689946
TREX1 ; ATRIP ; ATRIP-TREX1
C 0.700 CausalMutation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs760838030
rs760838030
TREX1 ; ATRIP ; ATRIP-TREX1
T 0.700 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016
dbSNP: rs78300695
rs78300695
TREX1 ; ATRIP ; ATRIP-TREX1
TG 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: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
G 0.700 CausalMutation CLINVAR A nationwide survey of Aicardi-Goutières syndrome patients identifies a strong association between dominant TREX1 mutations and chilblain lesions: Japanese cohort study. 24300241

2014
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
G 0.700 CausalMutation CLINVAR [Clinical and genetic analysis of a family with Aicardi-Goutières syndrome and literature review]. 25582466

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: rs760594164
rs760594164
TREX1 ; ATRIP ; ATRIP-TREX1
CA 0.700 CausalMutation CLINVAR A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain. 23602593

2013
dbSNP: rs760594164
rs760594164
TREX1 ; ATRIP ; ATRIP-TREX1
CA 0.700 CausalMutation 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: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357

2013
dbSNP: rs77371662
rs77371662
TREX1 ; ATRIP ; ATRIP-TREX1
TGGC 0.700 CausalMutation CLINVAR The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424

2011
dbSNP: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
dbSNP: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT A de novo p.Asp18Asn mutation in TREX1 in a patient with Aicardi-Goutières syndrome. 20799324

2010
dbSNP: rs79318303
rs79318303
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
G 0.700 CausalMutation CLINVAR Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
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: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087

2007
dbSNP: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. 18045533

2007
dbSNP: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007
dbSNP: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 17293595

2007
dbSNP: rs77371662
rs77371662
TREX1 ; ATRIP ; ATRIP-TREX1
TGGC 0.700 CausalMutation CLINVAR Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007
dbSNP: rs76224909
rs76224909
TREX1 ; SHISA5 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398

2006
dbSNP: rs1416519719
rs1416519719
TREX1 ; ATRIP ; ATRIP-TREX1
0.700 GeneticVariation UNIPROT