Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3792366
rs3792366
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0032181
Disease:
Platelet Count measurement 		G 0.800 GeneticVariation GWASDB New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs3792366
rs3792366
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0032181
Disease:
Platelet Count measurement 		G 0.800 GeneticVariation GWASCAT New gene functions in megakaryopoiesis and platelet formation. 22139419 2011
dbSNP: rs2278668
rs2278668
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
dbSNP: rs920900
rs920900
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C2985280
Disease:
Blood Protein Measurement 		C 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs1530455
rs1530455
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C2697765
Disease:
Interleukin 17 Measurement 		C 0.700 GeneticVariation GWASCAT Genome-wide Association Study Identifies 27 Loci Influencing Concentrations of Circulating Cytokines and Growth Factors. 27989323 2017
dbSNP: rs16834024
rs16834024
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0337428
Disease:
Fibrinogen assay 		0.700 GeneticVariation GWASCAT Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. 28107422 2017
dbSNP: rs1976714
rs1976714
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0337428
Disease:
Fibrinogen assay 		0.700 GeneticVariation GWASCAT Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. 28107422 2017
dbSNP: rs1976714
rs1976714
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0337428
Disease:
Fibrinogen assay 		T 0.700 GeneticVariation GWASCAT A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. 26561523 2016
dbSNP: rs3804749
rs3804749
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0032181
Disease:
Platelet Count measurement 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3804749
rs3804749
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C3828530
Disease:
Platelet Component Distribution Width Measurement 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs3804749
rs3804749
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0200665
Disease:
Platelet mean volume determination (procedure) 		T 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs2292661
rs2292661
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0020538
Disease:
Hypertensive disease 		0.010 GeneticVariation BEFREE Multivariable logistic regression analysis with adjustment for age, sex and the prevalence of hypertension and diabetes mellitus revealed that 4 of these SNPs [rs3212335 of GABRB3 (P=0.0036; odds ratio, 1.29), rs147783135 of TMPRSS7 (P=0.0024; odds ratio, 0.37), rs2292661 of PDIA5 (P=0.0054; odds ratio, 0.35) and rs191885206 of CYP4F12 (P=0.0082; odds ratio, 2.60)] were related (P<0.01) to ischemic stroke. 28487959 2017
dbSNP: rs2292661
rs2292661
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0011849
Disease:
Diabetes Mellitus 		0.010 GeneticVariation BEFREE Multivariable logistic regression analysis with adjustment for age, sex and the prevalence of hypertension and diabetes mellitus revealed that 4 of these SNPs [rs3212335 of GABRB3 (P=0.0036; odds ratio, 1.29), rs147783135 of TMPRSS7 (P=0.0024; odds ratio, 0.37), rs2292661 of PDIA5 (P=0.0054; odds ratio, 0.35) and rs191885206 of CYP4F12 (P=0.0082; odds ratio, 2.60)] were related (P<0.01) to ischemic stroke. 28487959 2017
dbSNP: rs2292661
rs2292661
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0948008
Disease:
Ischemic stroke 		0.010 GeneticVariation BEFREE Multivariable logistic regression analysis with adjustment for age, sex and the prevalence of hypertension and diabetes mellitus revealed that 4 of these SNPs [rs3212335 of GABRB3 (P=0.0036; odds ratio, 1.29), rs147783135 of TMPRSS7 (P=0.0024; odds ratio, 0.37), rs2292661 of PDIA5 (P=0.0054; odds ratio, 0.35) and rs191885206 of CYP4F12 (P=0.0082; odds ratio, 2.60)] were related (P<0.01) to ischemic stroke. 28487959 2017
dbSNP: rs11720822
rs11720822
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0017605
Disease:
Angle Closure Glaucoma 		0.010 GeneticVariation BEFREE 278 patients with POAG, 132 patients with primary angle closure glaucoma (PACG) and 135 patients with pseudoexfoliative glaucoma (PEXG) were genotyped for single nucleotide polymorphisms (SNPs) rs11720822 in PDIA5 and 471 POAG, 184 PACG and 218 PEXG patients were genotyped for rs2754511 in BIRC6. 25118708 2014
dbSNP: rs11720822
rs11720822
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0017606
Disease:
Primary angle-closure glaucoma 		0.010 GeneticVariation BEFREE 278 patients with POAG, 132 patients with primary angle closure glaucoma (PACG) and 135 patients with pseudoexfoliative glaucoma (PEXG) were genotyped for single nucleotide polymorphisms (SNPs) rs11720822 in PDIA5 and 471 POAG, 184 PACG and 218 PEXG patients were genotyped for rs2754511 in BIRC6. 25118708 2014
dbSNP: rs11720822
rs11720822
Entrez Id: 10954
Gene Symbol: PDIA5
PDIA5
CUI: C0339573
Disease:
Glaucoma, Primary Open Angle 		0.010 GeneticVariation BEFREE The allele and genotype frequencies of rs11720822 in PDIA5 were not associated with POAG, PACG or PEXG. 25118708 2014