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.
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
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
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
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
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
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
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
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
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
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 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
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
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
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
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
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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.020 1.000 2 2004 2019
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