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: rs774072476
rs774072476
NFE2L2
1.000 0.040 2 177234112 missense variant C/T snv 8.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.020 1.000 2 2010 2018
dbSNP: rs767964519
rs767964519
NFE2L2
0.925 0.120 2 177231869 missense variant T/C snv 4.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2018 2018
dbSNP: rs767964519
rs767964519
NFE2L2
0.925 0.120 2 177231869 missense variant T/C snv 4.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs756455214
rs756455214
NFE2L2
1.000 0.040 2 177231420 missense variant T/A snv 4.0E-06
CUI: C0029401
Disease: Osteitis Deformans
Osteitis Deformans 		0.010 < 0.001 1 2013 2013
dbSNP: rs755135182
rs755135182
NFE2L2
2 177231657 missense variant G/A snv 4.0E-06
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.020 1.000 2 2014 2018
dbSNP: rs755135182
rs755135182
NFE2L2
2 177231657 missense variant G/A snv 4.0E-06
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2014 2014
dbSNP: rs750553272
rs750553272
NFE2L2
0.851 0.080 2 177230898 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		0.010 1.000 1 2018 2018
dbSNP: rs750553272
rs750553272
NFE2L2
0.851 0.080 2 177230898 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs750553272
rs750553272
NFE2L2
0.851 0.080 2 177230898 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C4048328
Disease: cervical cancer
cervical cancer 		0.010 1.000 1 2018 2018
dbSNP: rs750553272
rs750553272
NFE2L2
0.851 0.080 2 177230898 missense variant G/A snv 1.2E-05 7.0E-06
CUI: C0279671
Disease: Cervical Squamous Cell Carcinoma
Cervical Squamous Cell Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs746497256
rs746497256
NFE2L2
0.925 0.080 2 177231925 synonymous variant A/G snv 8.0E-06 7.0E-06
CUI: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2008 2008
dbSNP: rs746497256
rs746497256
NFE2L2
0.925 0.080 2 177231925 synonymous variant A/G snv 8.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 < 0.001 1 2007 2007
dbSNP: rs746497256
rs746497256
NFE2L2
0.925 0.080 2 177231925 synonymous variant A/G snv 8.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2007 2007
dbSNP: rs6726395
rs6726395
NFE2L2
0.851 0.240 2 177238501 intron variant A/G snv 0.52
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 < 0.001 1 2016 2016
dbSNP: rs6726395
rs6726395
NFE2L2
0.851 0.240 2 177238501 intron variant A/G snv 0.52
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		0.010 1.000 1 2019 2019
dbSNP: rs6726395
rs6726395
NFE2L2
0.851 0.240 2 177238501 intron variant A/G snv 0.52
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		0.010 < 0.001 1 2014 2014
dbSNP: rs6726395
rs6726395
NFE2L2
0.851 0.240 2 177238501 intron variant A/G snv 0.52
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		0.010 1.000 1 2013 2013
dbSNP: rs6721961
rs6721961
NFE2L2
0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		0.020 1.000 2 2013 2013
dbSNP: rs6721961
rs6721961
NFE2L2
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 		0.020 1.000 2 2013 2013
dbSNP: rs6721961
rs6721961
NFE2L2
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 		0.020 1.000 2 2013 2013
dbSNP: rs6721961
rs6721961
NFE2L2
0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		0.010 1.000 1 2020 2020
dbSNP: rs6721961
rs6721961
NFE2L2
0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs6721961
rs6721961
NFE2L2
0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0234985
Disease: Mental deterioration
Mental deterioration 		0.010 1.000 1 2018 2018
dbSNP: rs6721961
rs6721961
NFE2L2
0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		0.010 1.000 1 2015 2015
dbSNP: rs6721961
rs6721961
NFE2L2
0.672 0.520 2 177265309 intron variant T/C;G snv 0.89
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2015 2015