PNKD, PNKD metallo-beta-lactamase domain containing, 25953
N. diseases: 96; N. variants: 20
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 2 | 218270555 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.820 | 1.000 | 8 | 2004 | 2012 | ||||||||
|
0.882 | 0.080 | 2 | 218270561 | missense variant | C/T | snv |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.820 | 1.000 | 7 | 2004 | 2011 | ||||||||
|
0.925 | 0.040 | 2 | 218286495 | 5 prime UTR variant | A/C | snv | 0.61 |
|
Digestive System Diseases | 0.810 | 1.000 | 3 | 2012 | 2017 | |||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
Digestive System Diseases; Neoplasms | 0.730 | 1.000 | 4 | 2016 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218290058 | 5 prime UTR variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
2 | 218305802 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 218273447 | intron variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.080 | 2 | 218319713 | intron variant | C/T | snv | 0.32 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 218297998 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 218297998 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 |