Source: ALL

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: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		0.800 1.000 21 1996 2012
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0030305
Disease: Pancreatitis
Pancreatitis 		0.100 0.800 10 2000 2020
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		0.060 1.000 6 2001 2017
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0341471
Disease: Idiopathic chronic pancreatitis
Idiopathic chronic pancreatitis 		0.030 1.000 3 2001 2017
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0001339
Disease: Acute pancreatitis
Acute pancreatitis 		0.030 1.000 3 2006 2012
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		0.020 1.000 2 2006 2010
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C4551632
Disease: Recurrent pancreatitis
Recurrent pancreatitis 		0.010 1.000 1 2012 2012
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		0.010 1.000 1 2008 2008
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0262417
Disease: Acute on chronic pancreatitis
Acute on chronic pancreatitis 		0.010 1.000 1 2003 2003
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		0.010 1.000 1 2008 2008
dbSNP: rs111033565
rs111033565
PRSS1
0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0221002
Disease: Hyperparathyroidism, Primary
Hyperparathyroidism, Primary 		0.010 1.000 1 2008 2008