Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3814055
rs3814055
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.020 GeneticVariation BEFREE Three PXR polymorphisms, including the 1 more strongly correlated with IBD risk in the initial study at -25385C/T (rs3814055) and the 6 haplotypes conformed by them, were analyzed in 365 UC and 331 CD patients and compared with 550 ethnically matched controls. 17828778 2007
dbSNP: rs3814055
rs3814055
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE Three PXR polymorphisms, including the 1 more strongly correlated with IBD risk in the initial study at -25385C/T (rs3814055) and the 6 haplotypes conformed by them, were analyzed in 365 UC and 331 CD patients and compared with 550 ethnically matched controls. 17828778 2007
dbSNP: rs2461823
rs2461823
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE One SNP rs2461823 (P = 0.05) was nominally associated with CD. 18381611 2008
dbSNP: rs12721613
rs12721613
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0268318
Disease:
Cholestasis of pregnancy
0.010 GeneticVariation BEFREE Two coding single nucleotide polymorphisms (C79T and G106A) were detected in the ICP cohort at frequencies consistent with healthy populations. 18800312 2008
dbSNP: rs749979628
rs749979628
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0268318
Disease:
Cholestasis of pregnancy
0.010 GeneticVariation BEFREE Two coding single nucleotide polymorphisms (C79T and G106A) were detected in the ICP cohort at frequencies consistent with healthy populations. 18800312 2008
dbSNP: rs7643645
rs7643645
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C4529962
Disease:
Fatty Liver Disease
0.010 GeneticVariation BEFREE Finally, in univariate analysis rs7643645/G was significantly associated with fatty liver disease (P<0.04), with an odds ratio of 1.457 (95% confidence interval: 1.018-2.086). 19940802 2010
dbSNP: rs2461823
rs2461823
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0268318
Disease:
Cholestasis of pregnancy
0.010 GeneticVariation BEFREE Genotypic test for single SNPs showed that rs2461823 genotypes were significantly associated with intrahepatic cholestasis of pregnancy (P < 0.0069), OR per G allele: 1.44, 95% CI: 1.01-2.05, P < 0.042. 19958310 2010
dbSNP: rs984502020
rs984502020
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0521158
Disease:
Recurrent tumor
0.010 GeneticVariation BEFREE In combined analysis, grouping alleles into favorable versus nonfavorable alleles, high expression variants of PAR-1 -506 ins/del (any insertion allele) and EGF +61 A>G (A/A) were associated with a higher likelihood of developing tumor recurrence (adjusted P value<0.001). 20101173 2010
dbSNP: rs1523127
rs1523127
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.020 GeneticVariation BEFREE Genotypes of nuclear factor (NF)-κB (NFKB1) NFκB -94ins/del (rs28362491); peroxisome proliferator-activated receptor (PPAR)-γ (PPARγ) PPARγ Pro12Ala (rs 1801282) and C1431T (rs 3856806); pregnane X receptor (PXR) (NR1I2) PXR A-24381C (rs1523127), C8055T (2276707), and A7635G (rs 6785049); and liver X receptor (LXR) (NR1H2) LXR T-rs1405655-C and T-rs2695121-C were assessed in a Danish case-control study of 327 Crohn's disease patients, 495 ulcerative colitis (UC) patients, and 779 healthy controls. 21245992 2011
dbSNP: rs6785049
rs6785049
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.020 GeneticVariation BEFREE PXR A7635G (rs6785049) variant genotype was associated with a higher risk of UC diagnosis before the age of 40 years and with a higher risk of extensive disease (OR: 1.34, 95% CI: 1.03-1.75 and OR: 2.49, 95% CI: 1.24-5.03, respectively). 21245992 2011
dbSNP: rs1478478283
rs1478478283
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE The aim of the present study was to search for an association of the protease activated receptor (PAR)1 gene -506 insertion/deletion (I/D), factor V Leiden (FVL), prothrombin (PT) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with disease-free survival (DFS) in breast cancer. 21822552 2012
dbSNP: rs1478478283
rs1478478283
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The aim of the present study was to search for an association of the protease activated receptor (PAR)1 gene -506 insertion/deletion (I/D), factor V Leiden (FVL), prothrombin (PT) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T polymorphisms with disease-free survival (DFS) in breast cancer. 21822552 2012
dbSNP: rs1523127
rs1523127
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.020 GeneticVariation BEFREE Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1500 healthy, unrelated controls was analyzed for eight PXR/NR1I2 single nucleotide polymorphisms (SNPs) (rs12721602 (-25564), rs3814055 (-25385), rs1523128 (-24756), rs1523127 (-24381), rs45610735 = p.Gly36Arg (+106), rs6785049 (+7635), rs2276707 (+8055), and rs3814057 (+11156)). 21830270 2011
dbSNP: rs3814055
rs3814055
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.020 GeneticVariation BEFREE Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1500 healthy, unrelated controls was analyzed for eight PXR/NR1I2 single nucleotide polymorphisms (SNPs) (rs12721602 (-25564), rs3814055 (-25385), rs1523128 (-24756), rs1523127 (-24381), rs45610735 = p.Gly36Arg (+106), rs6785049 (+7635), rs2276707 (+8055), and rs3814057 (+11156)). 21830270 2011
dbSNP: rs6785049
rs6785049
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.020 GeneticVariation BEFREE Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1500 healthy, unrelated controls was analyzed for eight PXR/NR1I2 single nucleotide polymorphisms (SNPs) (rs12721602 (-25564), rs3814055 (-25385), rs1523128 (-24756), rs1523127 (-24381), rs45610735 = p.Gly36Arg (+106), rs6785049 (+7635), rs2276707 (+8055), and rs3814057 (+11156)). 21830270 2011
dbSNP: rs12721602
rs12721602
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE In CD, the strongest disease association was found for a haplotype consisting of the SNPs rs12721602-rs3814055-rs1523128-rs1523127-rs12721607-rs6785049-rs2276707-rs3814057 (omnibus P-value: 6.50 × 10(-15)) which was found in two separate cohorts (cohort I = discovery cohort: CD: n = 492, controls: n = 793; P = 4.51 × 10(-17); Bonferroni corrected: P = 1.27 × 10(-15); cohort II = replication cohort: CD: n = 367, controls: n = 707; P = 7.12 × 10(-4); P(corr) = 1.99 × 10(-2)). 21830270 2011
dbSNP: rs12721602
rs12721602
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1500 healthy, unrelated controls was analyzed for eight PXR/NR1I2 single nucleotide polymorphisms (SNPs) (rs12721602 (-25564), rs3814055 (-25385), rs1523128 (-24756), rs1523127 (-24381), rs45610735 = p.Gly36Arg (+106), rs6785049 (+7635), rs2276707 (+8055), and rs3814057 (+11156)). 21830270 2011
dbSNP: rs12721607
rs12721607
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE In CD, the strongest disease association was found for a haplotype consisting of the SNPs rs12721602-rs3814055-rs1523128-rs1523127-rs12721607-rs6785049-rs2276707-rs3814057 (omnibus P-value: 6.50 × 10(-15)) which was found in two separate cohorts (cohort I = discovery cohort: CD: n = 492, controls: n = 793; P = 4.51 × 10(-17); Bonferroni corrected: P = 1.27 × 10(-15); cohort II = replication cohort: CD: n = 367, controls: n = 707; P = 7.12 × 10(-4); P(corr) = 1.99 × 10(-2)). 21830270 2011
dbSNP: rs1523127
rs1523127
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE In CD, the strongest disease association was found for a haplotype consisting of the SNPs rs12721602-rs3814055-rs1523128-rs1523127-rs12721607-rs6785049-rs2276707-rs3814057 (omnibus P-value: 6.50 × 10(-15)) which was found in two separate cohorts (cohort I = discovery cohort: CD: n = 492, controls: n = 793; P = 4.51 × 10(-17); Bonferroni corrected: P = 1.27 × 10(-15); cohort II = replication cohort: CD: n = 367, controls: n = 707; P = 7.12 × 10(-4); P(corr) = 1.99 × 10(-2)). 21830270 2011
dbSNP: rs1523128
rs1523128
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1500 healthy, unrelated controls was analyzed for eight PXR/NR1I2 single nucleotide polymorphisms (SNPs) (rs12721602 (-25564), rs3814055 (-25385), rs1523128 (-24756), rs1523127 (-24381), rs45610735 = p.Gly36Arg (+106), rs6785049 (+7635), rs2276707 (+8055), and rs3814057 (+11156)). 21830270 2011
dbSNP: rs1523128
rs1523128
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE In CD, the strongest disease association was found for a haplotype consisting of the SNPs rs12721602-rs3814055-rs1523128-rs1523127-rs12721607-rs6785049-rs2276707-rs3814057 (omnibus P-value: 6.50 × 10(-15)) which was found in two separate cohorts (cohort I = discovery cohort: CD: n = 492, controls: n = 793; P = 4.51 × 10(-17); Bonferroni corrected: P = 1.27 × 10(-15); cohort II = replication cohort: CD: n = 367, controls: n = 707; P = 7.12 × 10(-4); P(corr) = 1.99 × 10(-2)). 21830270 2011
dbSNP: rs2276707
rs2276707
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE In CD, the strongest disease association was found for a haplotype consisting of the SNPs rs12721602-rs3814055-rs1523128-rs1523127-rs12721607-rs6785049-rs2276707-rs3814057 (omnibus P-value: 6.50 × 10(-15)) which was found in two separate cohorts (cohort I = discovery cohort: CD: n = 492, controls: n = 793; P = 4.51 × 10(-17); Bonferroni corrected: P = 1.27 × 10(-15); cohort II = replication cohort: CD: n = 367, controls: n = 707; P = 7.12 × 10(-4); P(corr) = 1.99 × 10(-2)). 21830270 2011
dbSNP: rs2276707
rs2276707
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE The PXR/NR1I2 SNP rs2276707 was weakly associated with UC susceptibility (P = 0.01; odds ratio [OR] 1.27 [1.06-1.52]). 21830270 2011
dbSNP: rs3814055
rs3814055
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0010346
Disease:
Crohn Disease
0.010 GeneticVariation BEFREE In CD, the strongest disease association was found for a haplotype consisting of the SNPs rs12721602-rs3814055-rs1523128-rs1523127-rs12721607-rs6785049-rs2276707-rs3814057 (omnibus P-value: 6.50 × 10(-15)) which was found in two separate cohorts (cohort I = discovery cohort: CD: n = 492, controls: n = 793; P = 4.51 × 10(-17); Bonferroni corrected: P = 1.27 × 10(-15); cohort II = replication cohort: CD: n = 367, controls: n = 707; P = 7.12 × 10(-4); P(corr) = 1.99 × 10(-2)). 21830270 2011
dbSNP: rs3814057
rs3814057
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0009324
Disease:
Ulcerative Colitis
0.010 GeneticVariation BEFREE Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1500 healthy, unrelated controls was analyzed for eight PXR/NR1I2 single nucleotide polymorphisms (SNPs) (rs12721602 (-25564), rs3814055 (-25385), rs1523128 (-24756), rs1523127 (-24381), rs45610735 = p.Gly36Arg (+106), rs6785049 (+7635), rs2276707 (+8055), and rs3814057 (+11156)). 21830270 2011