Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs768565639
rs768565639
RNASEH2B
0.700 GeneticVariation UNIPROT The structural and biochemical characterization of human RNase H2 complex reveals the molecular basis for substrate recognition and Aicardi-Goutières syndrome defects. 21177858

2011
dbSNP: rs768565639
rs768565639
RNASEH2B
0.700 GeneticVariation UNIPROT Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome. 20131292

2010
dbSNP: rs768565639
rs768565639
RNASEH2B
0.700 GeneticVariation UNIPROT Clinical and molecular phenotype of Aicardi-Goutieres syndrome. 17846997

2007
dbSNP: rs768565639
rs768565639
RNASEH2B
0.700 GeneticVariation UNIPROT Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. 16845400

2006