PRSS1, serine protease 1, 5644

N. diseases: 117; N. variants: 33
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: rs111033566
rs111033566 		0.742 0.280 7 142750600 missense variant A/C;T snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.900 1.000 31 1996 2015
dbSNP: rs267606982
rs267606982 		0.742 0.120 7 142751938 missense variant GC/AT mnv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.900 1.000 26 1996 2012
dbSNP: rs111033568
rs111033568 		0.882 0.040 7 142751937 missense variant C/G;T snv 2.0E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.820 1.000 25 1996 2018
dbSNP: rs111033565
rs111033565 		0.742 0.120 7 142751938 missense variant G/A snv 1.2E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.800 1.000 21 1996 2012
dbSNP: rs202003805
rs202003805 		0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.840 1.000 21 1996 2012
dbSNP: rs111033567
rs111033567 		0.882 0.040 7 142750582 missense variant A/G snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.820 1.000 15 1996 2015
dbSNP: rs199769221
rs199769221 		0.790 0.280 7 142751920 missense variant G/A;C;T snv 8.0E-05; 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.800 1.000 14 1998 2002
dbSNP: rs387906698
rs387906698 		0.827 0.040 7 142751919 missense variant C/A;T snv 4.0E-06; 7.2E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.820 1.000 13 1996 2009
dbSNP: rs111033564
rs111033564 		0.925 0.040 7 142751808 splice donor variant G/A snv 3.6E-05 9.8E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.710 1.000 12 1996 2017
dbSNP: rs144422014
rs144422014 		1.000 0.040 7 142750675 missense variant A/G snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 11 1996 2005
dbSNP: rs1554499091
rs1554499091 		0.925 0.040 7 142751884 missense variant T/C snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 11 1996 2005
dbSNP: rs189270875
rs189270875 		1.000 0.040 7 142752899 missense variant G/C snv 7.2E-04 2.4E-04
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 1.000 6 2006 2015
dbSNP: rs1223231582
rs1223231582 		0.677 0.280 7 142750639 missense variant A/G snv 7.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.050 1.000 5 2001 2007
dbSNP: rs199422123
rs199422123 		0.925 0.040 7 142751934 missense variant G/A;T snv 2.0E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.030 0.667 3 2008 2010
dbSNP: rs397507442
rs397507442 		0.925 0.040 7 142750579 missense variant A/G snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.720 1.000 2 2001 2002
dbSNP: rs144403091
rs144403091 		1.000 0.040 7 142751940 missense variant G/A;T snv 2.4E-05; 3.6E-05
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs768255958
rs768255958 		0.925 0.080 7 142751805 missense variant A/G snv 4.0E-06
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs193922655
rs193922655 		1.000 0.040 7 142751962 missense variant C/T snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs193922656
rs193922656 		1.000 0.040 7 142751971 missense variant C/G snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs397507439
rs397507439 		1.000 0.040 7 142750630 missense variant T/C snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs397507440
rs397507440 		1.000 0.040 7 142751988 missense variant T/A snv
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0
dbSNP: rs397507441
rs397507441 		1.000 0.040 7 142750576 inframe insertion -/TGACAAGAT delins
CUI: C0238339
Disease: Hereditary pancreatitis
Hereditary pancreatitis 		Digestive System Diseases 0.700 0