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: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0023492
Disease: Leukemia, T-Cell
Leukemia, T-Cell 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0220668
Disease: Congenital contractural arachnodactyly
Congenital contractural arachnodactyly 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0007097
Disease: Carcinoma
Carcinoma 		Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs361072
rs361072 		0.882 0.120 3 138759702 intron variant G/A;C snv
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs361072
rs361072 		0.882 0.120 3 138759702 intron variant G/A;C snv
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0151718
Disease: Hypocholesterolemia
Hypocholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs361072
rs361072 		0.882 0.120 3 138759702 intron variant G/A;C snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2009 2010
dbSNP: rs361072
rs361072 		0.882 0.120 3 138759702 intron variant G/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2008 2010
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0919267
Disease: ovarian neoplasm
ovarian neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
Carcinoma, Ovarian Epithelial 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0178874
Disease: Tumor Progression
Tumor Progression 		Pathological Conditions, Signs and Symptoms 0.020 1.000 2 2011 2012
dbSNP: rs1235228469
rs1235228469 		0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1235228469
rs1235228469 		0.925 0.120 3 138684714 missense variant C/A snv 8.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
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: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		Neoplasms 0.010 1.000 1 2012 2012