MUTYH, mutY DNA glycosylase, 4595
N. diseases: 156; N. variants: 174
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 |
|
Digestive System Diseases; Neoplasms | 0.800 | 1.000 | 17 | 2002 | 2019 | ||||||
|
0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 |
|
Digestive System Diseases; Neoplasms | 0.800 | 0.941 | 17 | 2002 | 2019 | ||||||
|
0.882 | 0.120 | 1 | 45331514 | frameshift variant | -/CC | delins | 1.6E-04 | 2.7E-04 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 6 | 2004 | 2012 | ||||||
|
0.925 | 0.120 | 1 | 45331676 | stop gained | G/A | snv | 1.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 6 | 2005 | 2009 | |||||||
|
0.851 | 0.160 | 1 | 45331529 | missense variant | G/A | snv | 7.2E-05 | 2.8E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2005 | 2010 | ||||||
|
0.882 | 0.120 | 1 | 45331700 | frameshift variant | G/- | delins | 6.4E-05 | 4.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2006 | 2009 | ||||||
|
0.882 | 0.120 | 1 | 45334493 | stop gained | G/A;C | snv | 8.0E-06; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2008 | 2009 | |||||||
|
0.925 | 0.120 | 1 | 45332440 | stop gained | G/A;C | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 4 | 2005 | 2009 | |||||||
|
0.882 | 0.120 | 1 | 45331558 | splice acceptor variant | T/C | snv | 2.4E-05 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 3 | 2004 | 2005 | ||||||
|
0.672 | 0.360 | 1 | 45331833 | missense variant | C/A;G | snv | 0.29 | 0.27 |
|
Digestive System Diseases; Neoplasms | 0.060 | 0.833 | 6 | 2008 | 2018 | ||||||
|
0.752 | 0.280 | 1 | 45329400 | missense variant | C/T | snv | 2.0E-05 | 2.8E-05 |
|
Digestive System Diseases; Neoplasms | 0.020 | 0.500 | 2 | 2008 | 2013 | ||||||
|
0.851 | 0.120 | 1 | 45332804 | frameshift variant | GCCAGCCCAG/- | delins | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 1 | 45332028 | missense variant | T/C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.120 | 1 | 45332794 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.925 | 0.080 | 1 | 45333297 | missense variant | G/A;T | snv | 6.0E-05 | 7.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.120 | 1 | 45332773 | missense variant | C/A;T | snv | 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 1 | 45333573 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.851 | 0.120 | 1 | 45333436 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
0.925 | 0.120 | 1 | 45332048 | synonymous variant | C/G;T | snv | 1.2E-05; 1.2E-05 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.080 | 1 | 45332393 | splice region variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 |