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: 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
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
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
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
Pancreatic adenocarcinoma metastatic
0.010 1.000 1 2017 2017
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0339985
Disease: Idiopathic bronchiectasis
Idiopathic bronchiectasis
Respiratory Tract Diseases 0.010 1.000 1 2014 2014