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: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.040 0.750 4 2003 2007
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2002 2005
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2005 2006
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2005 2006
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		Digestive System Diseases 0.020 1.000 2 2011 2019
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2004 2019
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		Endocrine System Diseases 0.020 1.000 2 2008 2011
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.020 1.000 2 2011 2011
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2004 2019
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
Fibrocalculous pancreatic diabetes 		0.020 1.000 2 2002 2002
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C1868653
Disease: Pancreatitis, Calcific
Pancreatitis, Calcific 		Digestive System Diseases 0.020 1.000 2 2004 2017
dbSNP: rs515726208
rs515726208 		1.000 0.040 5 147824702 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		Digestive System Diseases 0.020 1.000 2 2001 2003
dbSNP: rs104893939
rs104893939 		0.925 0.040 5 147831537 missense variant A/C;G snv
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		Digestive System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2004 2004
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis 		Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2005 2005
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
Fibrocalculous pancreatic diabetes 		0.010 1.000 1 2002 2002
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2003 2003
dbSNP: rs111966833
rs111966833 		0.776 0.320 5 147828053 missense variant G/A;C snv 4.5E-03
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease 		0.010 1.000 1 2009 2009
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0030583
Disease: Parotitis
Parotitis 		Stomatognathic Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases 		Digestive System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0810032
Disease: Pancreatic disorders (not diabetes)
Pancreatic disorders (not diabetes) 		Digestive System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic 		Digestive System Diseases; Chemically-Induced Disorders 0.010 < 0.001 1 2005 2005
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2003 2003