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: 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
dbSNP: rs376556895
rs376556895 		0.851 0.400 19 45352801 missense variant C/G;T snv 1.5E-04; 8.0E-06
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 0.810 1.000 15 1994 2016
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 14 2001 2014
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 14 2001 2014
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 14 2001 2014
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		Neoplasms 0.100 0.833 12 2012 2018
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.100 0.833 12 2012 2018
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
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 0.917 12 2003 2016
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.100 0.833 12 2012 2018
dbSNP: rs759412116
rs759412116 		0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
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 0.917 12 2004 2015
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.909 11 2002 2015
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.100 0.909 11 2011 2017
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.100 1.000 11 2005 2017
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.909 11 2002 2017
dbSNP: rs1799793
rs1799793 		0.557 0.640 19 45364001 missense variant C/A;T snv 7.1E-06; 0.29
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.900 10 2002 2017
dbSNP: rs759412116
rs759412116 		0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 10 2003 2015
dbSNP: rs759412116
rs759412116 		0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 10 2003 2015
dbSNP: rs759412116
rs759412116 		0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.100 1.000 10 2003 2015
dbSNP: rs13181
rs13181 		0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.090 0.778 9 2011 2018