Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE Although The NR1H2 polymorphism rs2695121 was nominally associated with MetS but correction for multiple-testing and adjustment for age, sex and number of MetS criteria, failed to identify any significant interactions associated with prevalence of MetS. 24100084 2013
dbSNP: rs1405655
rs1405655
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE Among never smokers, PXR A7635G and the LXR T-rs1405655-C and T-rs2695121-C variant genotypes were associated with risk of IBD (OR: 1.41, 95% CI: 1.05-1.91, P = 0.02, OR: 1.63, 95% CI: 1.21-2.20, P = 0.001, and OR: 2.02, 95% CI: 1.36-2.99, P = 0.0005, respectively) compared to the respective homozygous variant genotypes. 21245992 2011
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0021390
Disease:
Inflammatory Bowel Diseases
0.010 GeneticVariation BEFREE Among never smokers, PXR A7635G and the LXR T-rs1405655-C and T-rs2695121-C variant genotypes were associated with risk of IBD (OR: 1.41, 95% CI: 1.05-1.91, P = 0.02, OR: 1.63, 95% CI: 1.21-2.20, P = 0.001, and OR: 2.02, 95% CI: 1.36-2.99, P = 0.0005, respectively) compared to the respective homozygous variant genotypes. 21245992 2011
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0003467
Disease:
Anxiety
0.010 GeneticVariation BEFREE CETP variants that included G alleles of I422V and TaqIB were mostly associated with less intense frontally mediated behaviors, while severely impaired carriers of the T allele of rs2695121 had more anxiety and more aberrant motor behavior. 28099631 2017
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0003469
Disease:
Anxiety Disorders
0.010 GeneticVariation BEFREE CETP variants that included G alleles of I422V and TaqIB were mostly associated with less intense frontally mediated behaviors, while severely impaired carriers of the T allele of rs2695121 had more anxiety and more aberrant motor behavior. 28099631 2017
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0497327
Disease:
Dementia
0.010 GeneticVariation BEFREE Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clinical Dementia Rating scores, apolipoprotein E gene (APOE) haplotypes, angiotensin-converting enzyme gene (ACE) variants rs1800764 and rs4291, low-density lipoprotein cholesterol receptor gene (LDLR) variants rs11669576 and rs5930, cholesteryl ester transfer protein gene (CETP) variants I422V and TaqIB, and liver X receptor beta gene (NR1H2) polymorphism rs2695121. 28099631 2017
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0011265
Disease:
Presenile dementia
0.010 GeneticVariation BEFREE Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clinical Dementia Rating scores, apolipoprotein E gene (APOE) haplotypes, angiotensin-converting enzyme gene (ACE) variants rs1800764 and rs4291, low-density lipoprotein cholesterol receptor gene (LDLR) variants rs11669576 and rs5930, cholesteryl ester transfer protein gene (CETP) variants I422V and TaqIB, and liver X receptor beta gene (NR1H2) polymorphism rs2695121. 28099631 2017
dbSNP: rs35463555
rs35463555
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE Genotypes at two LXRB promoter SNPs, rs35463555 and rs17373080, associated nominally with T2D (P values 0.047 and 0.026). 19292929 2009
dbSNP: rs375532795
rs375532795
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. 20183911 2010
dbSNP: rs375532795
rs375532795
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Genotyping of polymorphisms of XRCC1 (Arg194Trp and Arg399Gln), OGG1 (Ser326Cys and Arg229Gln), ERCC2 Lys751Gln, ERCC4 Ser662Pro, and ERCC5 His1104Asp was performed and used to evaluate breast cancer susceptibility. 20183911 2010
dbSNP: rs17373080
rs17373080
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE However, the association between LXRB rs35463555 and rs17373080, and T2D are preliminary and needs to be investigated in additional larger cohorts. 19292929 2009
dbSNP: rs1035650739
rs1035650739
Entrez Id: 7376;9476;105372437
Gene Symbol: NR1H2;NAPSA;LOC105372437
NR1H2;NAPSA;LOC105372437
CUI: C0017601
Disease:
Glaucoma
0.010 GeneticVariation BEFREE In addition, we demonstrate that the glaucoma-associated optineurin E50K mutation not only enhances the interaction between optineurin and TBK1 but also alters the oligomeric state of optineurin, and the ALS-related TBK1 E696K mutation specifically disrupts the optineurin/TBK1 complex formation but has little effect on the NAP1/TBK1 complex. 27620379 2016
dbSNP: rs35463555
rs35463555
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0235782
Disease:
Gallbladder Carcinoma
0.010 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs35463555
rs35463555
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525301
Disease:
Stage IIB Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs35463555
rs35463555
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525305
Disease:
Stage IV Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs35463555
rs35463555
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525297
Disease:
Stage 0 Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs35463555
rs35463555
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0153452
Disease:
Malignant neoplasm of gallbladder
0.010 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs35463555
rs35463555
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525302
Disease:
Stage III Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs35463555
rs35463555
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525300
Disease:
Stage IIA Gallbladder Cancer AJCC v8
0.010 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0153452
Disease:
Malignant neoplasm of gallbladder
0.020 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0235782
Disease:
Gallbladder Carcinoma
0.020 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525301
Disease:
Stage IIB Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525297
Disease:
Stage 0 Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525302
Disease:
Stage III Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525300
Disease:
Stage IIA Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE LXR-β genotypes (rs35463555) [GA + AA] and (rs2695121) [TC + CC] were associated with risk of GBC [OR = 1.46, p = 0.03; OR = 1.52, p = 0.01, respectively] as compared to healthy controls whereas LXR-α (rs7120118) was not associated with GBC risk. 23838803 2013