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: rs1171134914
rs1171134914 		3 138655454 missense variant T/C snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1174984399
rs1174984399 		1.000 0.120 3 138714505 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1233960622
rs1233960622 		1.000 0.080 3 138699044 missense variant C/T snv 1.4E-05
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2015 2015
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: rs1304149814
rs1304149814 		3 138699042 missense variant A/C snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1331108652
rs1331108652 		3 138694820 stop gained G/A snv 4.0E-06
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2013 2013
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: rs371428527
rs371428527 		0.925 3 138737869 missense variant T/C;G snv 1.2E-05 1.4E-05
CUI: C4722172
Disease: Primary differentiated carcinoma of thyroid gland
Primary differentiated carcinoma of thyroid gland 		0.010 1.000 1 2019 2019
dbSNP: rs371428527
rs371428527 		0.925 3 138737869 missense variant T/C;G snv 1.2E-05 1.4E-05
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2019 2019
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: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2014 2014
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: C2931367
Disease: Thyroid cancer, follicular
Thyroid cancer, follicular 		Neoplasms 0.010 1.000 1 2013 2013
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: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0346957
Disease: Disseminated Malignant Neoplasm
Disseminated Malignant Neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0686619
Disease: Secondary malignant neoplasm of lymph node
Secondary malignant neoplasm of lymph node 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs752021744
rs752021744 		0.689 0.440 3 138759306 missense variant T/C snv 1.2E-05
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma 		Neoplasms 0.010 1.000 1 2013 2013
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