Source: CURATED

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: rs12471433
rs12471433
NFE2L2 ; MIR3128
2 177257637 intron variant A/C snv 0.29
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs17581525
rs17581525
NFE2L2
2 177281634 intron variant C/G snv 0.26
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs34468415
rs34468415
NFE2L2
2 177260414 intron variant A/G snv 0.28
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs35284526
rs35284526
NFE2L2 ; MIR3128
2 177256796 intron variant C/A;G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs35955110
rs35955110
NFE2L2
2 177278643 intron variant T/C snv 0.29
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs6433657
rs6433657
NFE2L2
2 177269949 intron variant A/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs1057519920
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
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 		0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
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 		0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
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 		0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0007873
Disease: Uterine Cervical Neoplasm
Uterine Cervical Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
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 		0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519921
rs1057519921
NFE2L2
0.763 0.240 2 177234231 missense variant T/C snv
CUI: C0153574
Disease: Malignant Uterine Corpus Neoplasm
Malignant Uterine Corpus Neoplasm 		0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
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 		0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv
CUI: C4540293
Disease: IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA
IMMUNODEFICIENCY, DEVELOPMENTAL DELAY, AND HYPOHOMOCYSTEINEMIA 		0.800 1.000 1 2017 2017
dbSNP: rs1057519922
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016