Source: CLINVAR

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: 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: 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: 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: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		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: 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