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: rs144594252
rs144594252
0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs144594252
rs144594252
0.882 0.080 1 162754625 missense variant C/G snv 6.8E-05 5.6E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs201701502
rs201701502
0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201701502
rs201701502
0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C0751688
Disease: Malignant Squamous Cell Neoplasm
Malignant Squamous Cell Neoplasm
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs201701502
rs201701502
0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs201701502
rs201701502
0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
Secondary malignant neoplasm of lung
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs201701502
rs201701502
0.851 0.080 1 162775837 missense variant C/G;T snv 1.5E-04 2.1E-05
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.010 1.000 1 2017 2017
dbSNP: rs267598140
rs267598140
0.925 0.080 1 162778600 missense variant T/A;G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs267598140
rs267598140
0.925 0.080 1 162778600 missense variant T/A;G snv
CUI: C0686377
Disease: CNS metastases
CNS metastases
Neoplasms; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs765660823
rs765660823
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs765660823
rs765660823
0.882 0.200 1 162778720 missense variant A/C snv 1.9E-04
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018