Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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: 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: 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: rs3814058
rs3814058
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE These results suggested that the rs3814058C>T polymorphism of PXR interacts with smoking on increasing lung cancer risk in Chinese smokers, which might be a functional genetic biomarker for lung cancer. 25268617 2014
dbSNP: rs3814058
rs3814058
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE These results suggested that the rs3814058C>T polymorphism of PXR interacts with smoking on increasing lung cancer risk in Chinese smokers, which might be a functional genetic biomarker for lung cancer. 25268617 2014
dbSNP: rs3814058
rs3814058
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C1306460
Disease:
Primary malignant neoplasm of lung
0.020 GeneticVariation BEFREE In stratified analyses, rs3814058 polymorphism was revealed to increase the cancer risk in lung cancer subgroup. 29654162 2018
dbSNP: rs3814058
rs3814058
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0684249
Disease:
Carcinoma of lung
0.020 GeneticVariation BEFREE In stratified analyses, rs3814058 polymorphism was revealed to increase the cancer risk in lung cancer subgroup. 29654162 2018
dbSNP: rs3814058
rs3814058
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE These results suggested that the rs3814058C>T polymorphism of PXR interacts with smoking on increasing lung cancer risk in Chinese smokers, which might be a functional genetic biomarker for lung cancer. 25268617 2014
dbSNP: rs3814058
rs3814058
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0242379
Disease:
Malignant neoplasm of lung
0.020 GeneticVariation BEFREE In stratified analyses, rs3814058 polymorphism was revealed to increase the cancer risk in lung cancer subgroup. 29654162 2018
dbSNP: rs6785049
rs6785049
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.020 GeneticVariation BEFREE One SNP (rs4986791 in the TLR-4 locus) and 2 SNPs (rs6785049 in the Pregnane-x-receptor gene and rs10500264 in the SLCA10 gene) were associated with a change in albumin and hemoglobin over time respectively in our IBD cohort. 30423580 2019
dbSNP: rs6785049
rs6785049
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.020 GeneticVariation BEFREE Our analyses of rs1523127, rs2276707, and rs6785049 suggested that PXR gene polymorphism had no obvious influence on the risk of IBD in Caucasians. 28742404 2017
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: 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: 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: 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: rs13059232
rs13059232
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE Our results suggest that NR1I2 variant (rs13059232) could serve as biomarker for clopidogrel therapy and individualized antiplatelet medications in the treatment of acute IS patients. 30487649 2019
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: 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: C0040034
Disease:
Thrombocytopenia
0.010 GeneticVariation BEFREE Carriers of two copies of the ATG haplotypes of NR1I2-rs1523130, rs3814055 and rs1523127 were 19% less sensitive to thrombocytopenia than those harboring other haplotypes (p = 0.025). 26267044 2015
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: C0031099
Disease:
Periodontitis
0.010 GeneticVariation BEFREE For one haplotype (GTGAG) composed of rs12721602, rs3814055, rs1523128, rs12721607 and rs6785049, a significant association with periodontitis was found [p-value after permutation with 100,000 iterations (p(permut.)) 21954916 2012