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: 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: 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