Source: ALL

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: 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: 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: 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: rs1434704960
rs1434704960
NFE2L2
1.000 0.080 2 177231543 missense variant C/T snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		0.010 1.000 1 2017 2017
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: rs587778556
rs587778556
NFE2L2
2 177231705 missense variant G/A snv 3.2E-05 4.9E-05
CUI: C0949664
Disease: Tauopathies
Tauopathies 		0.020 1.000 2 2014 2018
dbSNP: rs587778556
rs587778556
NFE2L2
2 177231705 missense variant G/A snv 3.2E-05 4.9E-05
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders 		0.010 1.000 1 2014 2014
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: 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: 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: C0001430
Disease: Adenoma
Adenoma 		0.010 1.000 1 2008 2008
dbSNP: rs1185894299
rs1185894299
NFE2L2
1.000 0.040 2 177232545 synonymous variant A/T snv 4.0E-06 7.0E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2016 2016
dbSNP: rs1469602964
rs1469602964
NFE2L2
1.000 0.040 2 177233301 missense variant A/T snv 4.1E-06
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 1.000 1 2016 2016
dbSNP: rs1553487942
rs1553487942
NFE2L2
1.000 2 177234076 missense variant C/T snv
CUI: C4540293
Disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.800 1.000 1 2017 2017
dbSNP: rs1553487947
rs1553487947
NFE2L2
1.000 2 177234078 missense variant G/T snv
CUI: C4540293
Disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.800 1.000 1 2017 2017
dbSNP: rs1057519924
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016