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: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2016
dbSNP: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2012 2016
dbSNP: rs1618536
rs1618536 		1.000 0.080 19 45368348 intron variant T/A;C snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs238415
rs238415 		0.851 0.120 19 45353977 intron variant C/A;G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs238415
rs238415 		0.851 0.120 19 45353977 intron variant C/A;G;T snv
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs238415
rs238415 		0.851 0.120 19 45353977 intron variant C/A;G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs238415
rs238415 		0.851 0.120 19 45353977 intron variant C/A;G;T snv
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: rs238416
rs238416 		1.000 0.080 19 45353791 intron variant T/A;C snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs238417
rs238417 		1.000 0.080 19 45353210 intron variant G/C;T snv 0.59; 3.6E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs3916874
rs3916874 		0.851 0.120 19 45353668 intron variant C/A;G snv 0.19
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3916874
rs3916874 		0.851 0.120 19 45353668 intron variant C/A;G snv 0.19
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3916874
rs3916874 		0.851 0.120 19 45353668 intron variant C/A;G snv 0.19
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3916874
rs3916874 		0.851 0.120 19 45353668 intron variant C/A;G snv 0.19
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: rs50871
rs50871 		0.925 0.120 19 45359257 intron variant C/A snv 0.64
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs50871
rs50871 		0.925 0.120 19 45359257 intron variant C/A snv 0.64
CUI: C0007107
Disease: Malignant neoplasm of larynx
Malignant neoplasm of larynx 		Neoplasms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C4733094
Disease: progesterone receptor-positive breast cancer
progesterone receptor-positive breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C4733093
Disease: progesterone receptor-negative breast cancer
progesterone receptor-negative breast cancer 		0.010 1.000 1 2016 2016
dbSNP: rs50872
rs50872 		0.827 0.120 19 45359191 intron variant A/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0268138
Disease: Xeroderma Pigmentosum, Complementation Group D
Xeroderma Pigmentosum, Complementation Group D 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.100 0.938 32 2001 2019
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.800 0.963 27 2003 2019
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.962 26 2003 2019
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 0.962 26 2003 2019
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.842 19 2004 2019
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.100 0.842 19 2004 2019
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.100 0.800 15 2005 2019