Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1523130
rs1523130
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: rs3814055
rs3814055
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: 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: 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: 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
dbSNP: rs6785049
rs6785049
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
dbSNP: rs3732356
rs3732356
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C1445957
Disease:
Serum total cholesterol measurement
T 0.700 GeneticVariation GWASCAT Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. 30275531 2018
dbSNP: rs45610735
rs45610735
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0010346
Disease:
Crohn Disease
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: 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: 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: 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: 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
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: 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: 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: 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: 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: 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: 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: rs6785049
rs6785049
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: rs3814057
rs3814057
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: 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