Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Osteoporosis, Postmenopausal
CUI: C0029458
Disease: Osteoporosis, Postmenopausal
0.010 GeneticVariation BEFREE <b>Results:</b><i>P2X7R</i> rs2230911 was found to be associated with serum total cholesterol, triglyceride (TG), high-density lipoprotein (HDL), low-density lipoprotein, and BMD at the lumbar spine and hip in OP patients (<i>p</i> < 0.05). 31079509 2019
Bipolar Disorder
CUI: C0005586
Disease: Bipolar Disorder
0.010 GeneticVariation BEFREE Therefore, we aimed to investigate the C-terminal region of this gene in major depressive and bipolar disorders (MDD and BD) by studying possibly functional, non-synonymous polymorphisms within a 7 kb long region around the Gln460Arg, including Ala348Thr (rs1718119), Thr357Ser (rs2230911), and Glu496Ala (rs3751143) variants. 30664971 2019
Primary gout
CUI: C0149896
Disease: Primary gout
0.010 GeneticVariation BEFREE Our results reveal that P2RX7 rs2230911 may be associated with primary gout</span> risk in a Chinese Han male population and allele G may be a susceptibility factor for primary gout. 28243797 2017
Osteoporosis
CUI: C0029456
Disease: Osteoporosis
0.010 GeneticVariation BEFREE Results showed that rs3751143 was associated with OP; in particular, carriers of the C allele and CC/(AC + CC) genotypes were at a higher risk of OP, but no significant association of rs2230911, rs7958311, rs1718119, and rs2393799 with OP risk was observed. 28497417 2017
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
0.010 GeneticVariation BEFREE Results showed that rs1718119 was associated with SLE; in particular carriers of the A allele and AA/AG/(AG+AA) genotypes were at lower risk of the disease [A versus G, P < 0.001, odds ratio (OR) = 0.543, 95% CI: 0.424-0.697; AG versus GG, P = 0.018, OR = 0.659, 95% CI: 0.466-0.931; AA versus GG, P = 0.011, OR = 0.176, 95% CI: 0.046-0.668; AG+AA versus GG, P = 0.004, OR = 0.607, 95% CI: 0.433-0.850], but no significant differences in rs2230911 and rs3751143 were observed between SLE patients and controls. 23435013 2013
Nephritis
CUI: C0027697
Disease: Nephritis
0.010 GeneticVariation BEFREE Stratification of cases for the presence of nephritis showed that rs2230911 G allele and CG/(CG+GG) genotypes were at a lower risk of SLE with nephritis (LN) (G versus C, P = 0.011, OR = 0.640, 95% CI: 0.454-0.903; CG versus CC, P = 0.035, OR = 0.645, 95% CI: 0.429-0.970; GG versus CC, P = 0.101, OR = 0.349, 95% CI: 0.099-1.228; CG+GG versus CC, P = 0.015 OR = 0.612, 95% CI: 0.411-0.910), but rs1718119 and rs3751143 were not associated with LN. 23435013 2013