Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066844
rs2066844
NOD2
0.810 GeneticVariation BEFREE All participants were genotyped for NOD2 variants; all YAOS patients were heterozygous for the NOD2 IVS8<sup>+158</sup> variant (IVS8<sup>+158</sup>) and four patients also carried a concurrent NOD2 R702W variant (IVS8<sup>+158</sup>/R702W haplotype). 29471675

2018
dbSNP: rs2066844
rs2066844
NOD2
0.810 GeneticVariation UNIPROT NOD2-associated autoinflammatory disease: a large cohort study. 26070941

2015
dbSNP: rs2066844
rs2066844
NOD2
0.810 GeneticVariation UNIPROT A new category of autoinflammatory disease associated with NOD2 gene mutations. 21914217

2011
dbSNP: rs2066844
rs2066844
NOD2
T 0.810 SusceptibilityMutation CLINVAR

dbSNP: rs2066845
rs2066845
NOD2
0.800 GeneticVariation UNIPROT NOD2-associated autoinflammatory disease: a large cohort study. 26070941

2015
dbSNP: rs2066845
rs2066845
NOD2
0.800 GeneticVariation UNIPROT A new category of autoinflammatory disease associated with NOD2 gene mutations. 21914217

2011
dbSNP: rs2066845
rs2066845
NOD2
C 0.800 SusceptibilityMutation CLINVAR

dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR