Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2472670
rs2472670
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs2472670
rs2472670
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3
0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
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: rs12721613
rs12721613
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs12721613
rs12721613
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1879997
rs1879997
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0428472
Disease:
Serum HDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1879997
rs1879997
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0392885
Disease:
High density lipoprotein measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
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: 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 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 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: 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: 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: 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 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: 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: 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: 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: rs3814057
rs3814057
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE The findings demonstrated that rs3814058 polymorphism (CT compared with CC: pooled OR = 1.280, <i>P</i>=6.36E-05; TT compared with CC: pooled OR = 1.663, <i>P</i>=2.40E-04; dominant model: pooled OR = 1.382, <i>P</i>=2.58E-08; recessive model: pooled OR = 1.422, <i>P</i>=0.002; T compared with C: pooled OR = 1.292, <i>P</i>=6.35E-05) and rs3814057 polymorphism (AC compared with AA: pooled OR = 1.170, <i>P</i>=0.036; dominant model: pooled OR = 1.162, <i>P</i>=0.037) were associated with the risk of overall cancer. 29654162 2018
dbSNP: rs3814057
rs3814057
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE The findings demonstrated that rs3814058 polymorphism (CT compared with CC: pooled OR = 1.280, <i>P</i>=6.36E-05; TT compared with CC: pooled OR = 1.663, <i>P</i>=2.40E-04; dominant model: pooled OR = 1.382, <i>P</i>=2.58E-08; recessive model: pooled OR = 1.422, <i>P</i>=0.002; T compared with C: pooled OR = 1.292, <i>P</i>=6.35E-05) and rs3814057 polymorphism (AC compared with AA: pooled OR = 1.170, <i>P</i>=0.036; dominant model: pooled OR = 1.162, <i>P</i>=0.037) were associated with the risk of overall cancer. 29654162 2018
dbSNP: rs3814058
rs3814058
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE In stratified analyses, rs3814058</span> polymorphism was revealed to increase the cancer risk in lung cancer subgroup. 29654162 2018