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: C4525297
Disease:
Stage 0 Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525300
Disease:
Stage IIA Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525302
Disease:
Stage III Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0153452
Disease:
Malignant neoplasm of gallbladder
0.020 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0235782
Disease:
Gallbladder Carcinoma
0.020 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525305
Disease:
Stage IV Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525301
Disease:
Stage IIB Gallbladder Cancer AJCC v8
0.020 GeneticVariation BEFREE Single locus analysis showed association of MMP-2 (-735 C > T, -1306 C > T), MMP-7 - 181 A > G, MMP-9 (P574R, R668Q), TIMP-2 - 418 G > C, CYP1A1-MspI, CYP1A1-Ile462Val, PLCE1 (rs2274223 A > G, rs7922612 T > C) and LXR-beta T > C (rs3546355 G > A, rs2695121 T > C) polymorphisms with GBC risk (p < 0.05) whereas CYP1B1 and LXR-α variants were not associated with GBC risk. 24863943 2014
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
dbSNP: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C4525305
Disease:
Stage IV 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: rs17373080
rs17373080
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Our results suggest that rs17373080 in LXRβ is associated with T2DM and obesity, maybe via altered LXRβ expression. 20939869 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: rs2695121
rs2695121
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis
0.010 GeneticVariation BEFREE The LXRβ SNP rs2695121 was also shown to be associated with a 30% increase of ALS duration (p = 0.0055, FDR = 0.044). 28244008 2018
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: 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: 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: 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: rs1052677
rs1052677
Entrez Id: 5424;7376
Gene Symbol: POLD1;NR1H2
POLD1;NR1H2
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE The G allele of rs1449627 and the T allele of rs1405655 demonstrated an increased risk of developing TB (p<0.001, p = 0.002), and the T allele of rs3758673, the T allele of rs2279238, and the C allele of rs1449626 in LXRA and the C allele of rs17373080, the G allele of rs2248949, and the C allele of rs1052677 in LXRB were protective against TB patients compared to healthy controls (p = 0.0002, p = 0.006, p<0.001, p = 0.004, p = 0.008, p = 0.003, respectively). 24788534 2014
dbSNP: rs1405655
rs1405655
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE The G allele of rs1449627 and the T allele of rs1405655 demonstrated an increased risk of developing TB (p<0.001, p = 0.002), and the T allele of rs3758673, the T allele of rs2279238, and the C allele of rs1449626 in LXRA and the C allele of rs17373080, the G allele of rs2248949, and the C allele of rs1052677 in LXRB were protective against TB patients compared to healthy controls (p = 0.0002, p = 0.006, p<0.001, p = 0.004, p = 0.008, p = 0.003, respectively). 24788534 2014
dbSNP: rs17373080
rs17373080
Entrez Id: 7376
Gene Symbol: NR1H2
NR1H2
CUI: C0041296
Disease:
Tuberculosis
0.010 GeneticVariation BEFREE The G allele of rs1449627 and the T allele of rs1405655 demonstrated an increased risk of developing TB (p<0.001, p = 0.002), and the T allele of rs3758673, the T allele of rs2279238, and the C allele of rs1449626 in LXRA and the C allele of rs17373080, the G allele of rs2248949, and the C allele of rs1052677 in LXRB were protective against TB patients compared to healthy controls (p = 0.0002, p = 0.006, p<0.001, p = 0.004, p = 0.008, p = 0.003, respectively). 24788534 2014