MAP3K20, mitogen-activated protein kinase kinase kinase 20, 51776
N. diseases: 133; N. variants: 10
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 | 0.080 | 2 | 173232359 | missense variant | T/G | snv |
|
0.800 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.882 | 0.080 | 2 | 173118476 | intron variant | A/C;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.710 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
1.000 | 2 | 173209732 | missense variant | C/T | snv | 4.1E-06 | 2.1E-05 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
2 | 173229617 | intron variant | A/C;T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 173100328 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 173150440 | intron variant | G/A | snv | 0.45 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 2 | 173191085 | frameshift variant | AT/- | del | 7.0E-06 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 2 | 173182886 | frameshift variant | -/T | delins |
|
0.700 | 0 | |||||||||||||
|
1.000 | 2 | 173191110 | stop gained | G/A | snv |
|
0.700 | 0 | |||||||||||||
|
0.882 | 0.080 | 2 | 173232359 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 2 | 173232359 | missense variant | T/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.080 | 2 | 173091813 | intron variant | T/C | snv | 0.77 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 2 | 173091813 | intron variant | T/C | snv | 0.77 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 2 | 173091813 | intron variant | T/C | snv | 0.77 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
0.882 | 0.080 | 2 | 173118476 | intron variant | A/C;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.080 | 2 | 173118476 | intron variant | A/C;G;T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2018 | 2018 |