PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
Disease: Autosomal Dominant Hereditary Pancreatitis ×
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: rs111033565
rs111033565 		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 		Digestive System Diseases 0.020 1.000 2 2006 2010
dbSNP: rs111033566
rs111033566 		0.742 0.280 7 142750600 missense variant A/C;T snv
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		Digestive System Diseases 0.020 1.000 2 2002 2010
dbSNP: rs267606982
rs267606982 		0.742 0.120 7 142751938 missense variant GC/AT mnv
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		Digestive System Diseases 0.020 1.000 2 2006 2010
dbSNP: rs111033568
rs111033568 		0.882 0.040 7 142751937 missense variant C/G;T snv 2.0E-05
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		Digestive System Diseases 0.010 1.000 1 2002 2002
dbSNP: rs387906698
rs387906698 		0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05
CUI: C4080064
Disease: Autosomal Dominant Hereditary Pancreatitis
Autosomal Dominant Hereditary Pancreatitis 		Digestive System Diseases 0.010 1.000 1 2009 2009