Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.870 1.000 7 2000 2018
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		0.750 1.000 5 2002 2009
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.100 0.967 30 2001 2017
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.100 0.889 18 2001 2020
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.080 0.875 8 2005 2015
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		0.060 1.000 6 2002 2017
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0267937
Disease: Acute recurrent pancreatitis
Acute recurrent pancreatitis 		0.060 0.667 6 2006 2014
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0011847
Disease: Diabetes
Diabetes 		0.040 1.000 4 2002 2008
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.040 0.750 4 2003 2007
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.040 0.750 4 2003 2007
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.040 1.000 4 2002 2008
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.030 1.000 3 2002 2005
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C1868653
Disease: Pancreatitis, Calcific
Pancreatitis, Calcific 		0.020 1.000 2 2004 2017
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0747198
Disease: pancreatitis idiopathic
pancreatitis idiopathic 		0.020 1.000 2 2011 2011
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.020 1.000 2 2004 2019
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0271642
Disease: Fibrocalculous pancreatic diabetes
Fibrocalculous pancreatic diabetes 		0.020 1.000 2 2002 2002
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0267963
Disease: Exocrine pancreatic insufficiency
Exocrine pancreatic insufficiency 		0.020 1.000 2 2011 2019
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.020 1.000 2 2008 2011
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.020 1.000 2 2004 2019
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0376670
Disease: Pancreatitis, Alcoholic
Pancreatitis, Alcoholic 		0.010 < 0.001 1 2005 2005
dbSNP: rs17107315
rs17107315
SPINK1
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 		0.010 1.000 1 2004 2004
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0030293
Disease: Pancreatic Insufficiency
Pancreatic Insufficiency 		0.010 1.000 1 2011 2011
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0861727
Disease: Pancreatic adenocarcinoma metastatic
Pancreatic adenocarcinoma metastatic 		0.010 1.000 1 2017 2017
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0394005
Disease: Ataxic cerebral palsy
Ataxic cerebral palsy 		0.010 1.000 1 2003 2003
dbSNP: rs17107315
rs17107315
SPINK1
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.010 1.000 1 2003 2003