|
rs200288366
|
PRH1;PRR4;TAS2R14;TAS2R43;PRH1-PRR4;PRH1-TAS2R14
|
Pseudotumor Cerebri
|
|
0.700 |
GeneticVariation |
GWASCAT |
Genetic Survey of Adult-Onset Idiopathic Intracranial Hypertension.
|
29608535 |
2019 |
|
rs1031391
|
PRH1;PRR4;TAS2R14;PRH1-PRR4;PRH1-TAS2R14
|
sensory perception of bitter taste
|
|
0.700 |
GeneticVariation |
GWASDB |
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.
|
23966204 |
2014 |
|
rs2708377
|
PRH1;PRR4;TAS2R14;TAS2R46;PRH1-PRR4;PRH1-TAS2R14
|
sensory perception of bitter taste
|
|
0.700 |
GeneticVariation |
GWASDB |
GWAS of human bitter taste perception identifies new loci and reveals additional complexity of bitter taste genetics.
|
23966204 |
2014 |
|
rs4763235
|
PRH1;PRR4;TAS2R14;TAS2R19;PRH1-PRR4;PRH1-TAS2R14
|
Lymphocyte Count measurement
|
|
0.700 |
GeneticVariation |
GWASDB |
The combination of a genome-wide association study of lymphocyte count and analysis of gene expression data reveals novel asthma candidate genes.
|
22286170 |
2012 |
|
rs10772420
|
PRH1;PRR4;TAS2R14;TAS2R19;PRH1-PRR4;PRH1-TAS2R14
|
Caffeine related disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
We conducted Mendelian randomization analyses using genetic variants associated with the perception of bitter substances (rs1726866 for propylthiouracil [PROP], rs10772420 for quinine and rs2597979 for caffeine) to evaluate the intake of coffee, tea and alcohol among up to 438,870 UK Biobank participants.
|
30442986 |
2018 |
|
rs2597979
|
PRH1;PRR4;TAS2R14;PRH1-PRR4;PRH1-TAS2R14
|
Caffeine related disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
We conducted Mendelian randomization analyses using genetic variants associated with the perception of bitter substances (rs1726866 for propylthiouracil [PROP], rs10772420 for quinine and rs2597979 for caffeine) to evaluate the intake of coffee, tea and alcohol among up to 438,870 UK Biobank participants.
|
30442986 |
2018 |
|
rs758146734
|
PRH1;PRR4;PRH1-PRR4
|
Thrombophilia
|
|
0.010 |
GeneticVariation |
BEFREE |
The heterozygous mutation locus c.565C>T on the PROC gene is associated with thrombophilia.
|
30210609 |
2018 |
|
rs764734814
|
PRH1;PRH2;PRR4;PRH1-PRR4
|
Lupus anticoagulant disorder
|
|
0.010 |
GeneticVariation |
BEFREE |
It was concluded that the recurrent thrombosis of the proband is associated with the coexistence of p.Lys38Glu mutation in APOH gene and LA in plasma.
|
30074200 |
2018 |
|
rs764734814
|
PRH1;PRH2;PRR4;PRH1-PRR4
|
Thrombophilia
|
|
0.010 |
GeneticVariation |
BEFREE |
This study aimed to explore the mechanism of a novel mutation (p.Lys38Glu) in apolipoprotein H (APOH) gene causing hereditary beta2-glycoprotein I (β2GPI) deficiency and thrombosis in a proband with thrombophilia.
|
30074200 |
2018 |
|
rs1049112
|
PRH1;PRH2;PRR4;PRH1-PRR4
|
Liver carcinoma
|
|
0.010 |
GeneticVariation |
BEFREE |
On the other hand, AG and GA haplotypes of 2 CCL4 SNPs (rs1049112 and rs171915) also reduced the risks for HCC by 0.025 and 0.515 fold, respectively.
|
28824325 |
2017 |
|
rs1463502008
|
PRH1;PRH2;PRR4;PRH1-PRR4
|
Malaria
|
|
0.010 |
GeneticVariation |
BEFREE |
The TREM1 rs2234237T variant causing the amino acid exchange Thr25Ser, which has been associated with higher TREM-1 plasma levels, was significantly more frequent among patients with severe malaria than in those with uncomplicated malaria (P = 0.036).
|
27671831 |
2016 |
|
rs1463502008
|
PRH1;PRH2;PRR4;PRH1-PRR4
|
Complicated malaria
|
|
0.010 |
GeneticVariation |
BEFREE |
The TREM1 rs2234237T variant causing the amino acid exchange Thr25Ser, which has been associated with higher TREM-1 plasma levels, was significantly more frequent among patients with severe malaria than in those with uncomplicated malaria (P = 0.036).
|
27671831 |
2016 |
|
rs1015443
|
PRH1;PRR4;TAS2R13;PRH1-PRR4
|
Craniosynostosis
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
|
24415641 |
2014 |
|
rs12226919
|
PRH1;PRR4;TAS2R14;TAS2R20;PRH1-PRR4;PRH1-TAS2R14
|
Craniosynostosis
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
|
24415641 |
2014 |
|
rs12226920
|
PRH1;PRR4;TAS2R14;TAS2R20;PRH1-PRR4;PRH1-TAS2R14
|
Craniosynostosis
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, 3 previously undescribed missense variants were associated with CRS in our populations: 1 in the TAS2R13 gene (rs1015443), and the others in the TAS2R49 gene (rs12226920, rs12226919).
|
24415641 |
2014 |
|
rs368972037
|
PRH1;PRR4;PRH1-PRR4
|
Cardiomyopathy, Hypertrophic, Familial
|
|
0.010 |
GeneticVariation |
BEFREE |
Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.
|
24963656 |
2014 |
|
rs368972037
|
PRH1;PRR4;PRH1-PRR4
|
Hypertrophic Cardiomyopathy
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel p.G407C mutation in the β-MHC gene (MYH7) was identified to be responsible for familial HCM in this family.
|
24963656 |
2014 |
|
rs68157013
|
PRH1;PRR4;TAS2R14;TAS2R43;PRH1-PRR4;PRH1-TAS2R14
|
Caffeine related disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a significant association between differences in caffeine perception and the H212R variant but not with the W35S, which suggests that the effect of the TAS2R43 gene on coffee liking is mediated by caffeine and in particular by the H212R variant.
|
24647340 |
2014 |
|
rs71443637
|
PRH1;PRR4;TAS2R14;TAS2R43;PRH1-PRR4;PRH1-TAS2R14
|
Caffeine related disorders
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a significant association between differences in caffeine perception and the H212R variant but not with the W35S, which suggests that the effect of the TAS2R43 gene on coffee liking is mediated by caffeine and in particular by the H212R variant.
|
24647340 |
2014 |
|
rs1376251
|
PRH1;PRR4;TAS2R14;TAS2R50;PRH1-PRR4;PRH1-TAS2R14
|
Adenoma of large intestine
|
|
0.010 |
GeneticVariation |
BEFREE |
Using a case-control study of 914 colorectal adenoma cases/1188 controls, we explored associations among colorectal adenoma risk, dietary intake, and genetic variation in 3 bitter-taste receptor genes: TAS2R38 (rs713598, rs1726866, rs10246939), TAS2R16 (rs846672), and TAS2R50 (rs1376251).
|
24083639 |
2013 |
|
rs1015443
|
PRH1;PRR4;TAS2R13;PRH1-PRR4
|
Alcohol Use Disorder
|
|
0.010 |
GeneticVariation |
BEFREE |
We found a single nucleotide polymorphism (SNP) located within the TAS2R13 gene (rs1015443 [C1040T, Ser259Asn]), which showed a significant association with measures of alcohol consumption assessed via the Alcohol Use Disorders Identification Test (AUDIT).
|
22824251 |
2012 |
|
rs1376251
|
PRH1;PRR4;TAS2R14;TAS2R50;PRH1-PRR4;PRH1-TAS2R14
|
Coronary heart disease
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data indicate that the assessment of KIF6 rs20455 and TAS2R50 rs1376251 genotypes are not useful for predicting statin induced cardiovascular risk reduction in men, but do predict CHD risk reduction in women in this elderly population.
|
22192511 |
2012 |
|
rs758146734
|
PRH1;PRR4;PRH1-PRR4
|
Pyruvate Carboxylase Deficiency Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
The PROC c.565C>T mutation is the most frequent cause of PC deficiency as well as a prevalent risk factor for VT in Chinese individuals.
|
22545135 |
2012 |
|
rs1376251
|
PRH1;PRR4;TAS2R14;TAS2R50;PRH1-PRR4;PRH1-TAS2R14
|
Myocardial Infarction
|
|
0.010 |
GeneticVariation |
BEFREE |
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (OR13G1), and rs4804611 (ZNF627) which were found to be associated with myocardial infarction in the original report.
|
19709766 |
2011 |
|
rs773735195
|
PRH1;PRR4;PRH1-PRR4
|
Epidermolysis Bullosa Simplex
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala).
|
20030639 |
2010 |