CLPTM1L, CLPTM1 like, 81037

N. diseases: 110; N. variants: 20
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: rs31484
rs31484 		0.851 0.160 5 1337791 intron variant A/T snv 0.51
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs31484
rs31484 		0.851 0.160 5 1337791 intron variant A/T snv 0.51
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs31484
rs31484 		0.851 0.160 5 1337791 intron variant A/T snv 0.51
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs31489
rs31489 		0.763 0.320 5 1342599 intron variant C/A snv 0.41
CUI: C0221725
Disease: Bronchial Obstruction
Bronchial Obstruction 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs31489
rs31489 		0.763 0.320 5 1342599 intron variant C/A snv 0.41
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs31489
rs31489 		0.763 0.320 5 1342599 intron variant C/A snv 0.41
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs31490
rs31490 		0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs31490
rs31490 		0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs31490
rs31490 		0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs31490
rs31490 		0.776 0.280 5 1344343 splice region variant G/A;T snv 0.37; 8.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs380286
rs380286 		0.776 0.200 5 1320132 intron variant G/A snv 0.47
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs380286
rs380286 		0.776 0.200 5 1320132 intron variant G/A snv 0.47
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0699893
Disease: Skin carcinoma
Skin carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2009 2009
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0007114
Disease: Malignant neoplasm of skin
Malignant neoplasm of skin 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0028043
Disease: Nicotine Dependence
Nicotine Dependence 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0278996
Disease: Malignant Head and Neck Neoplasm
Malignant Head and Neck Neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs401681
rs401681 		0.620 0.640 5 1321972 intron variant C/T snv 0.48
CUI: C0024305
Disease: Lymphoma, Non-Hodgkin
Lymphoma, Non-Hodgkin 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014