Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE These findings suggest that the I1307K sequence is relatively rare in the germline of Jewish as well as non-Jewish IBD patients. 10445854

1999

dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE These findings suggest that the I1307K sequence is relatively rare in the germline of Jewish as well as non-Jewish IBD patients. 10445854

1999

dbSNP: rs1217691063
rs1217691063
0.050 GeneticVariation BEFREE There is an association between the thermolabile MTHFR C677T variant and IBD. 10446107

1999

dbSNP: rs1463038513
rs1463038513
APC
0.020 GeneticVariation BEFREE Prevalence of the I1307K variant was not significantly different among individuals with IBD, Crohn's disease, ulcerative colitis, and unaffected relatives (6.9%, 7.6%, 4.7%, and 6.2%, respectively), and the mutation was detected in only one of five IBD-affected individuals with a diagnosis of CRC. 11354631

2001

dbSNP: rs1801155
rs1801155
APC
0.020 GeneticVariation BEFREE Prevalence of the I1307K variant was not significantly different among individuals with IBD, Crohn's disease, ulcerative colitis, and unaffected relatives (6.9%, 7.6%, 4.7%, and 6.2%, respectively), and the mutation was detected in only one of five IBD-affected individuals with a diagnosis of CRC. 11354631

2001

dbSNP: rs1801275
rs1801275
0.010 GeneticVariation BEFREE We did not find any significant correlation between a 32-bp deletion variant of CCR5 or a single nucleotide change A1902G (Gln576Arg) of IL4RA, and IBD phenotypes, with the exception that in the UC group homozygosity for the G1902 allele of IL4RA was less frequent (0.019 vs 0.049, P=0.038). 11378820

2001

dbSNP: rs751377893
rs751377893
F5
0.020 GeneticVariation BEFREE Neither of the allele frequencies of genetic determinants for thrombophilia (coagulation factor V 1691G-->A (factor V Leiden) and factor II 20210G-->A polymorphisms) in the background population differed significantly from that in IBD patients. 11843038

2002

dbSNP: rs1183194405
rs1183194405
F2
0.020 GeneticVariation BEFREE We found no evidence of association of factor XIII valine34leucine polymorphism and inflammatory bowel disease. 11953689

2002

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. 12115195

2002

dbSNP: rs2066845
rs2066845
0.100 GeneticVariation BEFREE A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. 12115195

2002

dbSNP: rs2066842
rs2066842
0.010 GeneticVariation BEFREE A case-control study of NOD2 polymorphisms known to be associated with Crohn's disease (CD) (Pro(268)Ser, Arg(702)Trp, Gly(908)Arg, and Leu(1007)fsinsC) was performed in 229 cases of primary AS with no diagnosed inflammatory bowel disease (IBD), 197 cases of AS associated with IBD (referred to as colitic spondylarthritis; comprising 78 with CD and 119 with ulcerative colitis [UC]), and 229 ethnically matched, healthy controls. 12115195

2002

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE Two cohorts of consecutively identified patients referred to an inflammatory bowel disease center (n = 142 collected between 1993 and 1996; n = 59 collected between 1999 and 2001) were genotyped for 3 single nucleotide variants of NOD2-R675W, G881R, and 3020insC-and phenotyped for disease behavior, disease location, and serum immune markers. 12198692

2002

dbSNP: rs2066845
rs2066845
0.100 GeneticVariation BEFREE Two cohorts of consecutively identified patients referred to an inflammatory bowel disease center (n = 142 collected between 1993 and 1996; n = 59 collected between 1999 and 2001) were genotyped for 3 single nucleotide variants of NOD2-R675W, G881R, and 3020insC-and phenotyped for disease behavior, disease location, and serum immune markers. 12198692

2002

dbSNP: rs751377893
rs751377893
F5
0.020 GeneticVariation BEFREE Prevalence of factor V G1691A (Leiden), prothrombin G20210A, and methylene tetrahydrofolate reductase C677T thrombophilic mutations in children with inflammatory bowel disease. 12454577

2002

dbSNP: rs1188383936
rs1188383936
F2
0.010 GeneticVariation BEFREE Prevalence of factor V G1691A (Leiden), prothrombin G20210A, and methylene tetrahydrofolate reductase C677T thrombophilic mutations in children with inflammatory bowel disease. 12454577

2002

dbSNP: rs899127658
rs899127658
F2
0.010 GeneticVariation BEFREE Prevalence of factor V G1691A (Leiden), prothrombin G20210A, and methylene tetrahydrofolate reductase C677T thrombophilic mutations in children with inflammatory bowel disease. 12454577

2002

dbSNP: rs5498
rs5498
0.060 GeneticVariation BEFREE Association between K469E allele of intercellular adhesion molecule 1 gene and inflammatory bowel disease in a Japanese population. 12477764

2003

dbSNP: rs2066844
rs2066844
0.790 GeneticVariation BEFREE Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD. 12631669

2003

dbSNP: rs2066845
rs2066845
0.100 GeneticVariation BEFREE Our aim was to evaluate the allele frequencies of the CARD15 variants R702W, G908R, and 1007fs in Finnish inflammatory bowel disease (IBD) patients and to search for possible associations between CARD15 variants and occurrence of familial forms of IBD or complicated forms of CD. 12631669

2003

dbSNP: rs1045642
rs1045642
0.100 GeneticVariation BEFREE Significant association of Ala893 with IBD was observed by both case-control analysis (P=.002) and the pedigree disequilibrium test (PDT [P=.00020-.00030]) but not for the Asn21Asp or C3435T polymorphisms. 14610718

2003

dbSNP: rs9282564
rs9282564
0.010 GeneticVariation BEFREE Significant association of Ala893 with IBD was observed by both case-control analysis (P=.002) and the pedigree disequilibrium test (PDT [P=.00020-.00030]) but not for the Asn21Asp or C3435T polymorphisms. 14610718

2003

dbSNP: rs4986790
rs4986790
0.100 GeneticVariation BEFREE A TDT on 318 IBD trios demonstrated preferential transmission of the TLR4 Asp299Gly polymorphism from heterozygous parents to affected children (T/U: 68/34, p = 0.01). 15194649

2004

dbSNP: rs771184127
rs771184127
0.060 GeneticVariation BEFREE A TDT on 318 IBD trios demonstrated preferential transmission of the TLR4 Asp299Gly polymorphism from heterozygous parents to affected children (T/U: 68/34, p = 0.01). 15194649

2004

dbSNP: rs11554495
rs11554495
0.020 GeneticVariation BEFREE Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease. 15248378

2004

dbSNP: rs57749775
rs57749775
0.010 GeneticVariation BEFREE Our data indicate that both keratin 8 mutations, G62C and Y54H, do not play a relevant pathogenic role in inflammatory bowel disease. 15248378

2004