Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: rs34620296
rs34620296
HSPA1L
T 0.700 GeneticVariation CLINVAR De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. 28126021

2017
dbSNP: rs368138379
rs368138379
HSPA1L
T 0.700 GeneticVariation CLINVAR De novo and rare mutations in the HSPA1L heat shock gene associated with inflammatory bowel disease. 28126021

2017
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: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR A Case of Blau Syndrome with NOD2 E383K Mutation. 27339507

2016
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: rs104895477
rs104895477
NOD2
A 0.700 CausalMutation CLINVAR Ex vivo and in vitro production of pro-inflammatory cytokines in Blau syndrome. 25829188

2015
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: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR Ultrasonographic assessment reveals detailed distribution of synovial inflammation in Blau syndrome. 24713464

2014
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 Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. 25093298

2014
dbSNP: rs2066844
rs2066844
NOD2
T 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 The intermediate filament protein, vimentin, is a regulator of NOD2 activity. 22684479

2013
dbSNP: rs104895462
rs104895462
NOD2
T 0.700 CausalMutation CLINVAR NOD2/CARD15 gene mutation identified in a Chinese family with Blau syndrome. 22509093

2012
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: rs2066844
rs2066844
NOD2
T 0.700 SusceptibilityMutation CLINVAR NOD2 exonic variations in Iranian Crohn's disease patients. 21274544

2011
dbSNP: rs2066844
rs2066844
NOD2
T 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: 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: 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: 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 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 Incomplete penetrance of the NOD2 E383K substitution among members of a pediatric granulomatous arthritis pedigree. 19479836

2009
dbSNP: rs2066844
rs2066844
NOD2
T 0.700 SusceptibilityMutation CLINVAR Genotyping for NOD2 genetic variants and crohn disease: a metaanalysis. 19713276

2009