rs111033566, PRSS1

N. diseases: 11
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.
Hereditary pancreatitis
CUI: C0238339
Disease: Hereditary pancreatitis
108 0.742 0.280 7 142750600 missense variant A/C;T snv 0.900 1.000 31 1996 2015
Pancreatic trypsinogen deficiency
CUI: C0268417
Disease: Pancreatic trypsinogen deficiency
1 0.742 0.280 7 142750600 missense variant A/C;T snv 0.700 0
Pancreatitis
CUI: C0030305
Disease: Pancreatitis
80 0.742 0.280 7 142750600 missense variant A/C;T snv 0.030 1.000 3 1999 2011
Autosomal Dominant Hereditary Pancreatitis
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
6 0.742 0.280 7 142750600 missense variant A/C;T snv 0.020 1.000 2 2002 2010
Acute on chronic pancreatitis
CUI: C0262417
Disease: Acute on chronic pancreatitis
7 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2003 2003
Acute pancreatitis
CUI: C0001339
Disease: Acute pancreatitis
51 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012
Adamantinous Craniopharyngioma
CUI: C0431129
Disease: Adamantinous Craniopharyngioma
6 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2009 2009
Ataxic cerebral palsy
CUI: C0394005
Disease: Ataxic cerebral palsy
4 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2009 2009
Hyperparathyroidism, Primary
CUI: C0221002
Disease: Hyperparathyroidism, Primary
39 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2008 2008
Pancreatitis, Chronic
CUI: C0149521
Disease: Pancreatitis, Chronic
56 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012
Recurrent pancreatitis
CUI: C4551632
Disease: Recurrent pancreatitis
13 0.742 0.280 7 142750600 missense variant A/C;T snv 0.010 1.000 1 2012 2012