rs17107315, SPINK1

N. diseases: 40
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Fibrocalculous pancreatic diabetes
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
3 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2002 2002
Pancreatic Diseases
CUI: C0030286
Disease: Pancreatic Diseases
11 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2002 2002
Pancreatic disorders (not diabetes)
CUI: C0810032
Disease: Pancreatic disorders (not diabetes)
6 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2002 2002
Adamantinous Craniopharyngioma
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
6 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2003 2003
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
116 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2003 2003
Ataxic cerebral palsy
CUI: C0394005
Disease: Ataxic cerebral palsy
4 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2003 2003
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2004 2004
Pancreatic carcinoma, familial
CUI: C2931038
Disease: Pancreatic carcinoma, familial
9 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2004 2004
Parotitis
CUI: C0030583
Disease: Parotitis
2 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1 2004 2004
Diabetes Mellitus, Non-Insulin-Dependent
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
2672 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.030 1.000 3 2002 2005
Pancreatitis, Alcoholic
CUI: C0376670
Disease: Pancreatitis, Alcoholic
86 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1 2005 2005
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
58 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2006 2006
Malignant neoplasm of pancreas
CUI: C0346647
Disease: Malignant neoplasm of pancreas
277 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.040 0.750 4 2003 2007
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.040 0.750 4 2003 2007
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.040 1.000 4 2002 2008
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.040 1.000 4 2002 2008
TROPICAL CALCIFIC PANCREATITIS
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
13 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.750 1.000 7 2002 2009
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
81 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
222 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2009 2009
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
39 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2008 2011
pancreatitis idiopathic
CUI: C0747198
Disease: pancreatitis idiopathic
4 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2011 2011
Congenital bilateral aplasia of vas deferens
CUI: C0403814
Disease: Congenital bilateral aplasia of vas deferens
210 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2011 2011
Pancreatic Insufficiency
CUI: C0030293
Disease: Pancreatic Insufficiency
23 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2011 2011
Recurrent pancreatitis
CUI: C4551632
Disease: Recurrent pancreatitis
13 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2012 2012