EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11976235
rs11976235 		1.000 7 100722758 missense variant C/T snv 3.5E-03 3.7E-03
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 1.000 2 2016 2018
dbSNP: rs149431976
rs149431976 		1.000 7 100722991 missense variant C/G snv 9.1E-04 6.1E-04
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 1.000 2 2016 2018
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs551238
rs551238 		0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2016 2016
dbSNP: rs551238
rs551238 		0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs551238
rs551238 		0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1358275550
rs1358275550 		1.000 7 100723081 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C4693556
Disease: DIAMOND-BLACKFAN ANEMIA-LIKE
DIAMOND-BLACKFAN ANEMIA-LIKE 		0.700 0
dbSNP: rs137953994
rs137953994 		1.000 7 100722667 missense variant G/A;C snv 1.0E-03; 5.3E-05
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs1554393458
rs1554393458 		1.000 7 100721563 frameshift variant C/- delins
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs1554393463
rs1554393463 		1.000 7 100721576 frameshift variant G/- delins
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C2675471
Disease: MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding)
MICROVASCULAR COMPLICATIONS OF DIABETES, SUSCEPTIBILITY TO, 2 (finding) 		0.700 0
dbSNP: rs62483572
rs62483572 		1.000 7 100722010 missense variant G/A snv 2.4E-03 2.7E-03
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5 		0.700 0
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.040 0.750 4 2010 2017
dbSNP: rs507392
rs507392 		0.925 0.160 7 100722313 intron variant G/A;C snv
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.030 1.000 3 2010 2017
dbSNP: rs1617640
rs1617640 		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 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.020 1.000 2 2008 2010
dbSNP: rs1617640
rs1617640 		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 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2008 2010
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2008 2010
dbSNP: rs551238
rs551238 		0.925 0.160 7 100723905 downstream gene variant G/T snv 0.62
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.020 1.000 2 2010 2015
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0035344
Disease: Retinopathy of Prematurity
Retinopathy of Prematurity 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2014 2014
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
MYELODYSPLASTIC SYNDROME 		Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1617640
rs1617640 		0.742 0.520 7 100719675 upstream gene variant C/A;G;T snv
CUI: C1565489
Disease: Renal Insufficiency
Renal Insufficiency 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010