PRSS1, serine protease 1, 5644
N. diseases: 117; N. variants: 33
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.677 | 0.280 | 7 | 142750639 | missense variant | A/G | snv | 7.0E-06 |
|
Digestive System Diseases | 0.050 | 1.000 | 5 | 2001 | 2007 | |||||||
|
0.742 | 0.280 | 7 | 142750600 | missense variant | A/C;T | snv |
|
Digestive System Diseases | 0.900 | 1.000 | 31 | 1996 | 2015 | ||||||||
|
0.742 | 0.120 | 7 | 142751938 | missense variant | GC/AT | mnv |
|
Digestive System Diseases | 0.900 | 1.000 | 26 | 1996 | 2012 | ||||||||
|
0.742 | 0.120 | 7 | 142751938 | missense variant | G/A | snv | 1.2E-05 |
|
Digestive System Diseases | 0.800 | 1.000 | 21 | 1996 | 2012 | |||||||
|
0.790 | 0.280 | 7 | 142751920 | missense variant | G/A;C;T | snv | 8.0E-05; 4.0E-06 |
|
Digestive System Diseases | 0.800 | 1.000 | 14 | 1998 | 2002 | |||||||
|
0.827 | 0.120 | 7 | 142750561 | missense variant | C/T | snv | 9.0E-05 |
|
Digestive System Diseases | 0.840 | 1.000 | 21 | 1996 | 2012 | |||||||
|
0.827 | 0.040 | 7 | 142751919 | missense variant | C/A;T | snv | 4.0E-06; 7.2E-05 |
|
Digestive System Diseases | 0.820 | 1.000 | 13 | 1996 | 2009 | |||||||
|
0.882 | 0.040 | 7 | 142751937 | missense variant | C/G;T | snv | 2.0E-05 |
|
Digestive System Diseases | 0.820 | 1.000 | 25 | 1996 | 2018 | |||||||
|
0.882 | 0.040 | 7 | 142750582 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.820 | 1.000 | 15 | 1996 | 2015 | ||||||||
|
0.925 | 0.040 | 7 | 142751808 | splice donor variant | G/A | snv | 3.6E-05 | 9.8E-05 |
|
Digestive System Diseases | 0.710 | 1.000 | 12 | 1996 | 2017 | ||||||
|
0.925 | 0.040 | 7 | 142751884 | missense variant | T/C | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 11 | 1996 | 2005 | ||||||||
|
0.925 | 0.040 | 7 | 142751934 | missense variant | G/A;T | snv | 2.0E-05 |
|
Digestive System Diseases | 0.030 | 0.667 | 3 | 2008 | 2010 | |||||||
|
0.925 | 0.040 | 7 | 142750579 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.720 | 1.000 | 2 | 2001 | 2002 | ||||||||
|
0.925 | 0.080 | 7 | 142751805 | missense variant | A/G | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.040 | 7 | 142750675 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.700 | 1.000 | 11 | 1996 | 2005 | ||||||||
|
1.000 | 0.040 | 7 | 142752899 | missense variant | G/C | snv | 7.2E-04 | 2.4E-04 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2006 | 2015 | ||||||
|
1.000 | 0.040 | 7 | 142751940 | missense variant | G/A;T | snv | 2.4E-05; 3.6E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.040 | 7 | 142751962 | missense variant | C/T | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 142751971 | missense variant | C/G | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 142750630 | missense variant | T/C | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 142751988 | missense variant | T/A | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 7 | 142750576 | inframe insertion | -/TGACAAGAT | delins |
|
Digestive System Diseases | 0.700 | 0 |