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: 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
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 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: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
Hypocalciuric hypercalcemia, familial, type 1 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		Digestive System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0341472
Disease: Obstructive chronic pancreatitis
Obstructive chronic pancreatitis 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
Congenital bilateral aplasia of vas deferens 		Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-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: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 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: C0400966
Disease: Non-alcoholic Fatty Liver Disease
Non-alcoholic Fatty Liver Disease 		Digestive System Diseases 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: C0431129
Disease: Adamantinous Craniopharyngioma
Adamantinous Craniopharyngioma 		Neoplasms 0.010 1.000 1 2003 2003
dbSNP: rs17107315
rs17107315 		0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 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: C0149955
Disease: Annular pancreas
Annular pancreas 		Digestive System Diseases 0.010 1.000 1 2013 2013