Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75037667
rs75037667
0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010

dbSNP: rs76436818
rs76436818
0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010

dbSNP: rs76857106
rs76857106
0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010

dbSNP: rs77103971
rs77103971
0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010

dbSNP: rs79767407
rs79767407
0.800 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010

dbSNP: rs75037667
rs75037667
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007

dbSNP: rs76436818
rs76436818
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007

dbSNP: rs76857106
rs76857106
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007

dbSNP: rs77103971
rs77103971
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007

dbSNP: rs79767407
rs79767407
0.800 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007

dbSNP: rs75037667
rs75037667
0.800 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400

2006

dbSNP: rs76436818
rs76436818
0.800 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400

2006

dbSNP: rs76857106
rs76857106
0.800 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400

2006

dbSNP: rs77103971
rs77103971
0.800 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400

2006

dbSNP: rs79767407
rs79767407
0.800 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400

2006

dbSNP: rs75037667
rs75037667
A 0.800 CausalMutation CLINVAR

dbSNP: rs76436818
rs76436818
T 0.800 CausalMutation CLINVAR

dbSNP: rs76857106
rs76857106
A 0.800 CausalMutation CLINVAR

dbSNP: rs77103971
rs77103971
T 0.800 CausalMutation CLINVAR

dbSNP: rs79767407
rs79767407
A 0.800 CausalMutation CLINVAR

dbSNP: rs549586181
rs549586181
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: rs397515479
rs397515479
T 0.700 CausalMutation CLINVAR

dbSNP: rs397515480
rs397515480
A 0.700 CausalMutation CLINVAR

dbSNP: rs753679297
rs753679297
A 0.700 CausalMutation CLINVAR

dbSNP: rs753679297
rs753679297
A 0.700 GeneticVariation CLINVAR