CTRC, chymotrypsin C, 11330

N. diseases: 56; N. variants: 16
Disease: 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: rs121909293
rs121909293 		0.851 0.080 1 15445717 missense variant C/T snv 4.4E-03 3.8E-03
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.800 1.000 7 2008 2015
dbSNP: rs515726210
rs515726210 		1.000 0.040 1 15445688 inframe deletion CAAGAAGCCGGTAGTCTACACCCG/- delins
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 5 2008 2013
dbSNP: rs142560329
rs142560329 		0.925 0.040 1 15445703 missense variant C/T snv 9.9E-05 2.2E-04
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 4 2008 2013
dbSNP: rs200678111
rs200678111 		1.000 0.040 1 15444645 missense variant A/G snv 7.8E-04 9.1E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 4 2008 2013
dbSNP: rs202058123
rs202058123 		1.000 0.040 1 15445606 missense variant G/A;C snv 6.0E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 4 2008 2013
dbSNP: rs121909294
rs121909294 		0.925 0.040 1 15440524 stop gained G/A;T snv 2.4E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs1557508272
rs1557508272 		1.000 0.040 1 15440492 splice acceptor variant G/T snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs140993290
rs140993290 		1.000 0.040 1 15445660 missense variant G/A snv 1.1E-03 4.2E-04
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs183053579
rs183053579 		1.000 0.040 1 15445585 intron variant G/A;T snv 5.4E-04; 8.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs747905422
rs747905422 		1.000 0.040 1 15440344 stop gained C/T snv 1.2E-05 1.4E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs773119534
rs773119534 		1.000 0.040 1 15442522 frameshift variant G/- delins 4.0E-06 7.0E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs758920912
rs758920912 		1.000 0.040 1 15440494 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2012 2012