Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs78408272
rs78408272
A 0.800 CausalMutation CLINVAR

dbSNP: rs78846775
rs78846775
A 0.800 CausalMutation CLINVAR

dbSNP: rs1416519719
rs1416519719
0.700 GeneticVariation UNIPROT

dbSNP: rs1553820434
rs1553820434
TG 0.700 CausalMutation CLINVAR

dbSNP: rs74556809
rs74556809
GTGA 0.700 CausalMutation CLINVAR

dbSNP: rs74689946
rs74689946
CTG 0.700 CausalMutation CLINVAR

dbSNP: rs74876396
rs74876396
TCCCCCTGCTCCAAGCA 0.700 CausalMutation CLINVAR

dbSNP: rs755919767
rs755919767
T 0.700 GeneticVariation CLINVAR

dbSNP: rs76642637
rs76642637
A 0.700 CausalMutation CLINVAR

dbSNP: rs768724007
rs768724007
T 0.700 CausalMutation CLINVAR

dbSNP: rs78218009
rs78218009
T 0.700 CausalMutation CLINVAR

dbSNP: rs78379807
rs78379807
GGCCCTGCTCAGCATCTGTCAGTGGAGACCACAGGCCCTGCTGCGGTGGGTGGAT 0.700 CausalMutation CLINVAR

dbSNP: rs78762691
rs78762691
T 0.700 CausalMutation CLINVAR

dbSNP: rs78762691
rs78762691
T 0.700 GeneticVariation CLINVAR

dbSNP: rs78948846
rs78948846
TGTCA 0.700 CausalMutation CLINVAR

dbSNP: rs79993407
rs79993407
C 0.700 CausalMutation CLINVAR

dbSNP: rs121908117
rs121908117
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: rs72556554
rs72556554
A 0.800 CausalMutation CLINVAR Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutières syndrome at the AGS1 locus. 16845398

2006

dbSNP: rs72556554
rs72556554
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
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: rs78846775
rs78846775
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: rs76224909
rs76224909
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: rs121908117
rs121908117
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
A 0.800 CausalMutation CLINVAR The crystal structure of TREX1 explains the 3' nucleotide specificity and reveals a polyproline II helix for protein partnering. 17293595

2007

dbSNP: rs72556554
rs72556554
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