Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Crohn disease: frequency and nature of CARD15 mutations in Ashkenazi and Sephardi/Oriental Jewish families. 15024686

2004
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. 11385576

2001
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. 15571588

2004
dbSNP: rs2066847
rs2066847
NOD2
GC 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: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR The intermediate filament protein, vimentin, is a regulator of NOD2 activity. 22684479

2013
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. 11425413

2001
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations. 15198989

2004
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Dysfunctional Crohn's Disease-Associated NOD2 Polymorphisms Cannot be Reliably Predicted on the Basis of RIPK2 Binding or Membrane Association. 26500656

2015
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 19713276

2009
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. 12512038

2003
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. 11385577

2001
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. 11910337

2002
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR CARD15 genetic variation in a Quebec population: prevalence, genotype-phenotype relationship, and haplotype structure. 12019468

2002
dbSNP: rs2066847
rs2066847
NOD2
GC 0.700 SusceptibilityMutation CLINVAR Genome-wide expression profiling identifies an impairment of negative feedback signals in the Crohn's disease-associated NOD2 variant L1007fsinsC. 21335489

2011
dbSNP: rs2066847
rs2066847
NOD2
GC 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: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR CARD15 mutations in Blau syndrome. 11528384

2001
dbSNP: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR Ocular manifestations in Blau syndrome associated with a CARD15/Nod2 mutation. 14522785

2003
dbSNP: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. 25416713

2015
dbSNP: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR Blau syndrome associated with a CARD15/NOD2 mutation. 17157607

2006
dbSNP: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. 15459013

2005
dbSNP: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 24713464

2014
dbSNP: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. 15044951

2004
dbSNP: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 22509093

2012
dbSNP: rs1264862631
rs1264862631
NOD2
T 0.700 CausalMutation CLINVAR

dbSNP: rs2066844
rs2066844
NOD2
T 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