Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.040 0.750 4 2010 2017
dbSNP: rs507392
rs507392
EPO
0.925 0.160 7 100722313 intron variant G/A;C snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.030 1.000 3 2010 2017
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		0.020 1.000 2 2008 2010
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		0.020 1.000 2 2008 2010
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		0.020 1.000 2 2008 2010
dbSNP: rs551238
rs551238
EPO
0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		0.020 1.000 2 2010 2015
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2014 2014
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C2986665
Disease: Early-Stage Breast Carcinoma
Early-Stage Breast Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		0.010 1.000 1 2010 2010
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		0.010 1.000 1 2018 2018
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		0.010 1.000 1 2010 2010
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		0.010 1.000 1 2010 2010
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0002871
Disease: Anemia
Anemia 		0.010 1.000 1 2015 2015
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		0.010 < 0.001 1 2015 2015
dbSNP: rs1617640
rs1617640
EPO
0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2012 2012
dbSNP: rs201051019
rs201051019
EPO
1.000 0.040 7 100722981 missense variant G/A snv
CUI: C0032461
Disease: Polycythemia
Polycythemia 		0.010 1.000 1 2005 2005
dbSNP: rs507392
rs507392
EPO
0.925 0.160 7 100722313 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2015 2015
dbSNP: rs551238
rs551238
EPO
0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2015 2015