NFE2L2, nuclear factor, erythroid 2 like 2, 4780

N. diseases: 823; N. variants: 34
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: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2011 2018
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2011 2018
dbSNP: rs587778556
rs587778556 		2 177231705 missense variant G/A snv 3.2E-05 4.9E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs6721961
rs6721961 		0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2013 2013
dbSNP: rs6721961
rs6721961 		0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2013 2013
dbSNP: rs6721961
rs6721961 		0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2013 2013
dbSNP: rs755135182
rs755135182 		2 177231657 missense variant G/A snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies 		Nervous System Diseases 0.020 1.000 2 2014 2018
dbSNP: rs774072476
rs774072476 		1.000 0.040 2 177234112 missense variant C/T snv 8.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.020 1.000 2 2010 2018
dbSNP: rs10497511
rs10497511 		1.000 0.080 2 177254568 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs1057519920
rs1057519920 		0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920 		0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920 		0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920 		0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920 		0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920 		0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920 		0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921 		0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922 		0.790 0.200 2 177234082 missense variant C/G;T snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.700 1.000 1 2016 2016