Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs10937158
rs10937158
ABCC5
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea 		0.010 GeneticVariation BEFREE In combined cohorts, a two-marker ABCC5 rs3749438 and rs10937158 haplotype (T-C) predicted lower risk of severe diarrhea [odds ratio (OR) of 0.43; P=0.001]. 26352872

2015
dbSNP: rs1132776
rs1132776
ABCC5
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.010 GeneticVariation BEFREE Two synonymous ABCC5 SNPs, namely rs939336 (p.Cys594=; P = 0.013; odds ratio [OR] = 1.46; 95% confidence interval [CI], 1.08 to 1.97) and rs1132776 (p.Ala395=; P = 0.009; OR = 1.47; 95% CI: 1.10 to 1.95), were associated with PACG. 28813580

2017
dbSNP: rs1132776
rs1132776
ABCC5
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 GeneticVariation BEFREE Two synonymous ABCC5 SNPs, namely rs939336 (p.Cys594=; P = 0.013; odds ratio [OR] = 1.46; 95% confidence interval [CI], 1.08 to 1.97) and rs1132776 (p.Ala395=; P = 0.009; OR = 1.47; 95% CI: 1.10 to 1.95), were associated with PACG. 28813580

2017
dbSNP: rs1459206697
rs1459206697
ABCC5
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 GeneticVariation BEFREE We observed no evidence for previously reported T2D association with Val262Leu or PARL using array and fine-map genomic and expression data. 25117150

2014
dbSNP: rs3749438
rs3749438
ABCC5
CUI: C1443924
Disease: Severe diarrhea
Severe diarrhea 		0.010 GeneticVariation BEFREE In combined cohorts, a two-marker ABCC5 rs3749438 and rs10937158 haplotype (T-C) predicted lower risk of severe diarrhea [odds ratio (OR) of 0.43; P=0.001]. 26352872

2015
dbSNP: rs939336
rs939336
ABCC5
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma 		0.010 GeneticVariation BEFREE Two synonymous ABCC5 SNPs, namely rs939336 (p.Cys594=; P = 0.013; odds ratio [OR] = 1.46; 95% confidence interval [CI], 1.08 to 1.97) and rs1132776 (p.Ala395=; P = 0.009; OR = 1.47; 95% CI: 1.10 to 1.95), were associated with PACG. 28813580

2017
dbSNP: rs939336
rs939336
ABCC5
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma 		0.010 GeneticVariation BEFREE Two synonymous ABCC5 SNPs, namely rs939336 (p.Cys594=; P = 0.013; odds ratio [OR] = 1.46; 95% confidence interval [CI], 1.08 to 1.97) and rs1132776 (p.Ala395=; P = 0.009; OR = 1.47; 95% CI: 1.10 to 1.95), were associated with PACG. 28813580

2017