Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4705205
rs4705205
5 147839250 intergenic variant C/T snv 0.59
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic
Digestive System Diseases 0.100 0.967 30 2001 2017
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis
Digestive System Diseases 0.870 1.000 22 2000 2018
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0030305
Disease: Pancreatitis
Pancreatitis
Digestive System Diseases 0.100 0.889 18 2001 2020
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
PANCREATITIS, CHRONIC, SUSCEPTIBILITY TO
0.700 1.000 17 2000 2017
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis
Digestive System Diseases 0.080 0.875 8 2005 2015
dbSNP: rs17107315
rs17107315
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
Digestive System Diseases; Nutritional and Metabolic Diseases 0.750 1.000 7 2002 2009
dbSNP: rs17107315
rs17107315
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
Digestive System Diseases 0.060 0.667 6 2006 2014
dbSNP: rs17107315
rs17107315
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
Digestive System Diseases 0.060 1.000 6 2002 2017
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.040 1.000 4 2002 2008
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.040 1.000 4 2002 2008
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.040 0.750 4 2003 2007
dbSNP: rs17107315
rs17107315
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
Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.040 0.750 4 2003 2007
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 1.000 3 2002 2005
dbSNP: rs17107315
rs17107315
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
Digestive System Diseases 0.020 1.000 2 2011 2019
dbSNP: rs17107315
rs17107315
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
Neoplasms 0.020 1.000 2 2004 2019
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary
Endocrine System Diseases 0.020 1.000 2 2008 2011
dbSNP: rs17107315
rs17107315
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
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 1.000 2 2004 2019
dbSNP: rs17107315
rs17107315
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
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C1868653
Disease: Pancreatitis, Calcific
Pancreatitis, Calcific
Digestive System Diseases 0.020 1.000 2 2004 2017
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C4529962
Disease: Fatty Liver Disease
Fatty Liver Disease
0.010 1.000 1 2009 2009
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0030583
Disease: Parotitis
Parotitis
Stomatognathic Diseases 0.010 < 0.001 1 2004 2004
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0030286
Disease: Pancreatic Diseases
Pancreatic Diseases
Digestive System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs17107315
rs17107315
0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03
CUI: C0810032
Disease: Pancreatic disorders (not diabetes)
Pancreatic disorders (not diabetes)
Digestive System Diseases 0.010 1.000 1 2002 2002