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.
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
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
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
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
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
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
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
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
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
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
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
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
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
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.870 1.000 22 2000 2018
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
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
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
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
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
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
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2004 2019
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
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
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