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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 16 | 50707551 | intron variant | A/C | snv | 0.33 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.160 | 16 | 50732216 | splice donor variant | A/C | snv | 0.45 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.882 | 0.080 | 16 | 50712383 | 3 prime UTR variant | A/C | snv | 1.3E-02 | 1.4E-02 |
|
Digestive System Diseases | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||||
|
1.000 | 0.040 | 16 | 50710981 | missense variant | A/C | snv | 2.4E-04 | 1.5E-04 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
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 | |||||||
|
1.000 | 0.040 | 16 | 50711152 | missense variant | A/C;G | snv | 4.0E-06; 7.2E-05 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 |
|
Digestive System Diseases | 0.830 | 1.000 | 9 | 2007 | 2019 | |||||||
|
1.000 | 0.040 | 16 | 50710966 | missense variant | A/G | snv | 9.6E-04 | 3.8E-03 |
|
Digestive System Diseases | 0.710 | 1.000 | 7 | 2001 | 2018 | ||||||
|
0.851 | 0.120 | 16 | 50716899 | missense variant | A/G | snv | 1.2E-03 | 7.5E-04 |
|
Digestive System Diseases | 0.720 | < 0.001 | 2 | 2014 | 2018 | ||||||
|
1.000 | 0.040 | 16 | 50733736 | 3 prime UTR variant | A/G | snv | 0.56 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
0.925 | 0.080 | 16 | 50704069 | intron variant | A/G | snv | 0.68 |
|
Digestive System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.040 | 16 | 50716902 | missense variant | A/G | snv |
|
Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.040 | 16 | 50716931 | missense variant | A/G;T | snv | 1.3E-03; 4.0E-06 |
|
Digestive System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.040 | 16 | 50710998 | missense variant | A/T | snv | 4.8E-05 | 1.4E-05 |
|
Digestive System Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.040 | 16 | 50716670 | frameshift variant | C/- | del |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.716 | 0.400 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 1.5E-02 |
|
Digestive System Diseases | 0.890 | 0.923 | 13 | 2005 | 2019 | |||||||
|
0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
Digestive System Diseases | 0.830 | 1.000 | 8 | 2007 | 2017 | ||||||||
|
0.925 | 0.120 | 16 | 50729868 | frameshift variant | C/-;CC | delins |
|
Digestive System Diseases | 0.700 | 1.000 | 4 | 2007 | 2012 | ||||||||
|
0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 |
|
Digestive System Diseases | 0.790 | 1.000 | 10 | 2002 | 2014 | |||||||
|
1.000 | 0.040 | 16 | 50710842 | missense variant | C/A;T | snv | 5.9E-04 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2016 | |||||||
|
0.925 | 0.040 | 16 | 50711288 | synonymous variant | C/A;T | snv | 0.19 |
|
Digestive System Diseases | 0.710 | 1.000 | 2 | 2006 | 2010 | |||||||
|
1.000 | 0.040 | 16 | 50710792 | missense variant | C/G | snv | 1.9E-03 | 1.5E-03 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2016 | ||||||
|
0.882 | 0.080 | 16 | 50712085 | missense variant | C/G | snv | 3.2E-03 | 1.3E-02 |
|
Digestive System Diseases | 0.700 | 1.000 | 6 | 2001 | 2016 | ||||||
|
0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 |
|
Digestive System Diseases | 0.810 | 1.000 | 3 | 2007 | 2017 | |||||||
|
1.000 | 0.040 | 16 | 50711298 | missense variant | C/G | snv |
|
Digestive System Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 |