Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104895461
rs104895461
NOD2
A 0.700 CausalMutation CLINVAR

dbSNP: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR Blau syndrome, the prototypic auto-inflammatory granulomatous disease. 25136265

2014
dbSNP: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR Clinical and genetic aspects of Blau syndrome: a 25-year follow-up of one family and a literature review. 18718560

2009
dbSNP: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR A Case of Blau Syndrome with NOD2 E383K Mutation. 27339507

2016
dbSNP: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR Familial case of Blau syndrome associated with a CARD15/NOD2 mutation. 20565245

2010
dbSNP: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 25829188

2015
dbSNP: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. 25093298

2014
dbSNP: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR A new CARD15 mutation in Blau syndrome. 15812565

2005
dbSNP: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. 19479836

2009
dbSNP: rs139868987
rs139868987
HSPA1L
A 0.700 GeneticVariation CLINVAR De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. 28126021

2017
dbSNP: rs2236379
rs2236379
PRKCQ
A 0.700 CausalMutation CLINVAR

dbSNP: rs104895473
rs104895473
NOD2
C 0.700 CausalMutation CLINVAR

dbSNP: rs2066845
rs2066845
NOD2
C 0.700 SusceptibilityMutation CLINVAR Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. 15571588

2004
dbSNP: rs2066845
rs2066845
NOD2
C 0.700 SusceptibilityMutation CLINVAR NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe? 15190267

2004
dbSNP: rs2066845
rs2066845
NOD2
C 0.700 SusceptibilityMutation CLINVAR Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations. 15198989

2004
dbSNP: rs2066845
rs2066845
NOD2
C 0.700 SusceptibilityMutation CLINVAR Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 19713276

2009
dbSNP: rs2066845
rs2066845
NOD2
C 0.700 SusceptibilityMutation CLINVAR Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs. 18489434

2008
dbSNP: rs2066845
rs2066845
NOD2
C 0.700 SusceptibilityMutation CLINVAR Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. 12512038

2003
dbSNP: rs2066845
rs2066845
NOD2
C 0.700 SusceptibilityMutation CLINVAR Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 15024686

2004
dbSNP: rs2066845
rs2066845
NOD2
C 0.700 SusceptibilityMutation CLINVAR Evaluation of 22 genetic variants with Crohn's disease risk in the Ashkenazi Jewish population: a case-control study. 21548950

2011
dbSNP: rs750447828
rs750447828
HSPA1L
C 0.700 GeneticVariation CLINVAR De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. 28126021

2017
dbSNP: rs104895467
rs104895467
NOD2
G 0.700 SusceptibilityMutation CLINVAR Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. 21983784

2011
dbSNP: rs2227955
rs2227955
HSPA1L
G 0.700 GeneticVariation CLINVAR De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. 28126021

2017
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Variants of CARD15, TNFA and PTPN22 and susceptibility to Crohn's disease in the Czech population: high frequency of the CARD15 1007fs. 18489434

2008
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Monocyte-derived dendritic cells from Crohn patients show differential NOD2/CARD15-dependent immune responses to bacteria. 18240302

2008