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: 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: 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: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.060 0.833 6 2009 2019
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2011 2017
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2017
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2016 2016
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2008 2019
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: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
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: 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: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C0494165
Disease: Secondary malignant neoplasm of liver
Secondary malignant neoplasm of liver 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2018 2018
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: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-05
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T 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 2016 2016
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: C4525301
Disease: Stage IIB Gallbladder Cancer AJCC v8
Stage IIB Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs752742313
rs752742313 		0.637 0.320 3 138655502 missense variant C/T snv 1.2E-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: 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: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		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: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016