NFE2, nuclear factor, erythroid 2, 4778

N. diseases: 57; N. variants: 3
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: rs10506328
rs10506328 		12 54293448 intron variant A/C snv 0.75
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.800 1.000 2 2009 2014
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2017
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2017
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2016 2016
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs35979828
rs35979828 		12 54292096 intron variant C/T snv 5.0E-02
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs775387828
rs775387828 		0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828 		0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C0019562
Disease: Von Hippel-Lindau Syndrome
Von Hippel-Lindau Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828 		0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828 		0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828 		0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828 		0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C0032461
Disease: Polycythemia
Polycythemia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs775387828
rs775387828 		0.851 0.200 12 54293083 missense variant G/A snv 2.2E-05 7.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2013 2013