Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.730 GeneticVariation UNIPROT The TREX1 C-terminal region controls cellular localization through ubiquitination. 23979357

2013
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.730 GeneticVariation BEFREE The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity. 21937424

2011
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.730 GeneticVariation BEFREE A rare homozygous R114H mutation was identified in one Asian SLE patient, whereas all genotypes at this mutation in previous reports for SLE were heterozygous. 21270825

2011
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.730 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.730 GeneticVariation BEFREE By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a heterozygous mutation in systemic lupus erythematosus. 18805785

2008
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.730 GeneticVariation UNIPROT Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 are associated with systemic lupus erythematosus. 17660818

2007