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
0.030 GeneticVariation BEFREE Here we describe a patient with AGS due to a homozygous p.Arg114His mutation in the TREX1 gene. 28089741

2017
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.030 GeneticVariation BEFREE The TREX1 proteins containing R114H and the insertion mutations aspartate at position 201 (D201ins) and alanine at position 124 (A124ins), found in compound heterozygous AGS with R114H, were prepared and the DNA degradation activities were tested. 21937424

2011
dbSNP: rs72556554
rs72556554
TREX1 ; ATRIP ; ATRIP-TREX1
0.030 GeneticVariation BEFREE By comparison, the TREX1 R114H homozygous mutation causes AGS and is found as a heterozygous mutation in systemic lupus erythematosus. 18805785

2008