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
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
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007
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
0.800 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357

2013
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: 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
dbSNP: rs72556554
rs72556554
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: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357

2013
dbSNP: rs72556554
rs72556554
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: rs72556554
rs72556554
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: rs78408272
rs78408272
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
dbSNP: rs78408272
rs78408272
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357

2013
dbSNP: rs78408272
rs78408272
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: rs78408272
rs78408272
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007
dbSNP: rs78408272
rs78408272
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: rs78408272
rs78408272
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease. 18045533

2007
dbSNP: rs78408272
rs78408272
TREX1 ; ATRIP ; ATRIP-TREX1
0.800 GeneticVariation UNIPROT Heterozygous mutations in TREX1 cause familial chilblain lupus and dominant Aicardi-Goutieres syndrome. 17357087

2007
dbSNP: rs78408272
rs78408272
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: rs78846775
rs78846775
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