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: rs3200401
rs3200401 		0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2019 2019
dbSNP: rs3200401
rs3200401 		0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3200401
rs3200401 		0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2020 2020
dbSNP: rs3200401
rs3200401 		0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0345964
Disease: Adenoma of lung
Adenoma of lung 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs3200401
rs3200401 		0.742 0.320 11 65504361 splice region variant C/T snv 0.17 0.17
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs4102217
rs4102217 		0.925 0.120 11 65496424 upstream gene variant G/C snv 0.15
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs4102217
rs4102217 		0.925 0.120 11 65496424 upstream gene variant G/C snv 0.15
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs591291
rs591291 		1.000 0.040 11 65497011 upstream gene variant C/T snv 0.43
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2019 2019