NOD2, nucleotide binding oligomerization domain containing 2, 64127
N. diseases: 434; N. variants: 107
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
Digestive System Diseases | 0.820 | 1.000 | 3 | 2006 | 2017 | |||||||
|
1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv |
|
Digestive System Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 |
|
Digestive System Diseases | 0.790 | 1.000 | 10 | 2002 | 2017 | ||||||
|
0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 |
|
Digestive System Diseases | 0.100 | 1.000 | 11 | 2002 | 2017 | |||||||
|
0.790 | 0.200 | 16 | 50710807 | missense variant | G/A | snv | 1.2E-05 | 2.1E-05 |
|
Digestive System Diseases | 0.060 | 1.000 | 6 | 2004 | 2017 | ||||||
|
0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Digestive System Diseases | 0.030 | 1.000 | 3 | 2007 | 2009 | |||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
Digestive System Diseases | 0.020 | 1.000 | 2 | 2010 | 2016 | ||||||||
|
0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1.000 | 0.040 | 16 | 50710637 | synonymous variant | A/G | snv | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
16 | 50711025 | missense variant | G/A | snv | 7.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.925 | 0.040 | 16 | 50711664 | synonymous variant | C/T | snv | 4.0E-06 | 1.4E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.040 | 16 | 50707959 | splice region variant | A/G | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 16 | 50707883 | missense variant | T/C | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.040 | 16 | 50711288 | synonymous variant | C/A;T | snv | 0.19 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.040 | 16 | 50723350 | missense variant | A/C;G | snv | 1.7E-04; 4.4E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.882 | 0.080 | 16 | 50712383 | 3 prime UTR variant | A/C | snv | 1.3E-02 | 1.4E-02 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
0.925 | 0.040 | 16 | 50711546 | synonymous variant | C/T | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
16 | 50711106 | missense variant | G/A | snv | 1.2E-05 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.851 | 0.240 | 16 | 50699557 | missense variant | G/C | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
16 | 50710710 | missense variant | G/A | snv | 4.0E-06 |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 |