rs11976235
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
ERYTHROCYTOSIS, FAMILIAL, 5
0.700
GeneticVariation
UNIPROT
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
27651169
2016
rs11976235
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
ERYTHROCYTOSIS, FAMILIAL, 5
0.700
GeneticVariation
UNIPROT
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
29514032
2018
rs1358275550
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
DIAMOND-BLACKFAN ANEMIA-LIKE
0.700
GeneticVariation
UNIPROT
rs137953994
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
ERYTHROCYTOSIS, FAMILIAL, 5
0.700
GeneticVariation
UNIPROT
rs149431976
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
ERYTHROCYTOSIS, FAMILIAL, 5
0.700
GeneticVariation
UNIPROT
A Gain-of-Function Mutation in EPO in Familial Erythrocytosis.
29514032
2018
rs149431976
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
ERYTHROCYTOSIS, FAMILIAL, 5
0.700
GeneticVariation
UNIPROT
Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.
27651169
2016
rs1554393458
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
ERYTHROCYTOSIS, FAMILIAL, 5
T
0.700
CausalMutation
CLINVAR
rs1554393463
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
ERYTHROCYTOSIS, FAMILIAL, 5
T
0.700
CausalMutation
CLINVAR
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Corpuscular Hemoglobin Concentration Mean
0.700
GeneticVariation
GWASDB
Seventy-five genetic loci influencing the human red blood cell.
23222517
2012
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)
A
0.700
SusceptibilityMutation
CLINVAR
rs551238
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Red Blood Cell Count measurement
T
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs551238
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Corpuscular Hemoglobin Concentration Mean
0.700
GeneticVariation
GWASDB
Seventy-five genetic loci influencing the human red blood cell.
23222517
2012
rs551238
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Hematocrit procedure
T
0.700
GeneticVariation
GWASCAT
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
27863252
2016
rs62483572
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
ERYTHROCYTOSIS, FAMILIAL, 5
0.700
GeneticVariation
UNIPROT
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Diabetic Retinopathy
0.040
GeneticVariation
BEFREE
No clear associations between the rs1617640 and rs507392 polymorphisms and diabetic retinopathy were observed.
29348855
2017
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Diabetic Retinopathy
0.040
GeneticVariation
BEFREE
No significant differences were detected in the distributions of rs1617640 genotype or all polymorphisms' alleles between groups NDR and DR , PDR or NPDR.
25675872
2015
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Diabetic Retinopathy
0.040
GeneticVariation
BEFREE
Of particular interest, rs1617640 (EPO) was not significantly associated with DR status, combined SDR-DN phenotype, time to SDR or time to DN (all P > 0.05).
25487307
2015
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Diabetic Retinopathy
0.040
GeneticVariation
BEFREE
All 3 SNPs in EPO were associated with overall DR status in the combined T1DM and T2DM and T2DM alone groups (CC genotype of rs507392, P < .008; GG genotype of rs1617640 , P < .008; and CC genotype of rs551238, P < .008) in the multivariate analysis.
20065225
2010
rs507392
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Diabetic Retinopathy
0.030
GeneticVariation
BEFREE
Our data suggest that rs507392 and rs551238 in the erythropoietin gene probably act to lessen the risk for DR and PDR in the Chinese T2DM cohort.
25675872
2015
rs507392
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Diabetic Retinopathy
0.030
GeneticVariation
BEFREE
All 3 SNPs in EPO were associated with overall DR status in the combined T1DM and T2DM and T2DM alone groups (CC genotype of rs507392 , P < .008; GG genotype of rs1617640, P < .008; and CC genotype of rs551238, P < .008) in the multivariate analysis.
20065225
2010
rs507392
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Diabetic Retinopathy
0.030
GeneticVariation
BEFREE
No clear associations between the rs1617640 and rs507392 polymorphisms and diabetic retinopathy were observed.
29348855
2017
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Kidney Failure, Chronic
0.020
GeneticVariation
BEFREE
Recently, it was demonstrated that the T allele of SNP rs1617640 in the promoter of the erythropoetin (EPO) gene is significantly associated with proliferative diabetic retinopathy (PDR) and end-stage renal disease (ESRD ) due to increased EPO expression.
21092038
2010
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Kidney Failure, Chronic
0.020
GeneticVariation
BEFREE
These results suggest that rs1617640 in the EPO promoter is significantly associated with PDR and ESRD .
18458324
2008
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Chronic kidney disease stage 5
0.020
GeneticVariation
BEFREE
Recently, it was demonstrated that the T allele of SNP rs1617640 in the promoter of the erythropoetin (EPO) gene is significantly associated with proliferative diabetic retinopathy (PDR) and end-stage renal disease (ESRD ) due to increased EPO expression.
21092038
2010
rs1617640
×
Entrez Id:
2056
Gene Symbol:
EPO
EPO
Chronic kidney disease stage 5
0.020
GeneticVariation
BEFREE
These results suggest that rs1617640 in the EPO promoter is significantly associated with PDR and ESRD .
18458324
2008