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.
Annular pancreas
CUI: C0149955
Disease: Annular pancreas
1 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2013 2013
Obstructive chronic pancreatitis
CUI: C0341472
Disease: Obstructive chronic pancreatitis
1 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2013 2013
Pancreatitis, Calcific
CUI: C1868653
Disease: Pancreatitis, Calcific
2 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2004 2017
Pancreatic adenocarcinoma metastatic
CUI: C0861727
Disease: Pancreatic adenocarcinoma metastatic
2 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2017 2017
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
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
CUI: C1969419
Disease: PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
3 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.700 1.000 17 2000 2017
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
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
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
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
Idiopathic bronchiectasis
CUI: C0339985
Disease: Idiopathic bronchiectasis
6 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2014 2014
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
Acute recurrent pancreatitis
CUI: C0267937
Disease: Acute recurrent pancreatitis
7 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.060 0.667 6 2006 2014
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
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
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
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
Idiopathic chronic pancreatitis
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
16 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.060 1.000 6 2002 2017
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
Exocrine pancreatic insufficiency
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
26 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2011 2019
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
Acute pancreatitis
CUI: C0001339
Disease: Acute pancreatitis
51 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.080 0.875 8 2005 2015
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.100 0.967 30 2001 2017
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
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.100 0.889 18 2001 2020