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: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2002 2010
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2002 2010
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2006 2006
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2008 2008
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
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 0.010 1.000 1 2006 2006
dbSNP: rs941759532
rs941759532 		0.763 0.240 16 13932175 missense variant C/G snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2006 2006
dbSNP: rs912480692
rs912480692 		1.000 0.160 16 13935401 missense variant G/A snv
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs869025184
rs869025184 		1.000 0.160 16 13947896 frameshift variant TCTC/- delins
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs769679311
rs769679311 		1.000 0.160 16 13935469 missense variant G/A snv 4.0E-06
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 1999
dbSNP: rs764731249
rs764731249 		1.000 0.160 16 13928118 missense variant A/G snv 4.0E-06
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.700 1.000 4 1996 1999
dbSNP: rs759843019
rs759843019 		0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs759843019
rs759843019 		0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs759843019
rs759843019 		0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C0268140
Disease: Xeroderma pigmentosum, group F
Xeroderma pigmentosum, group F 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs759843019
rs759843019 		0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2005 2005
dbSNP: rs759843019
rs759843019 		0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2005 2005
dbSNP: rs759843019
rs759843019 		0.807 0.240 16 13920188 missense variant G/A snv 8.2E-06 7.0E-06
CUI: C0268141
Disease: Xeroderma pigmentosum, group G
Xeroderma pigmentosum, group G 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs744154
rs744154 		0.763 0.280 16 13921224 intron variant G/C snv 0.23
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2013
dbSNP: rs744154
rs744154 		0.763 0.280 16 13921224 intron variant G/C snv 0.23
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2013 2013
dbSNP: rs744154
rs744154 		0.763 0.280 16 13921224 intron variant G/C snv 0.23
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 < 0.001 1 2012 2012
dbSNP: rs744154
rs744154 		0.763 0.280 16 13921224 intron variant G/C snv 0.23
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006