MCL1, MCL1 apoptosis regulator, BCL2 family member, 4170
N. diseases: 375; N. variants: 8
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 | 150575271 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 150578851 | missense variant | G/A | snv | 8.4E-03 | 8.6E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 150580058 | upstream gene variant | G/A | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 150578448 | synonymous variant | T/C | snv | 9.0E-03 | 7.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 150578448 | synonymous variant | T/C | snv | 9.0E-03 | 7.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 150578819 | intron variant | T/C | snv | 3.8E-02 | 2.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 150575271 | 3 prime UTR variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.080 | 1 | 150579475 | missense variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 1 | 150579475 | missense variant | G/A;C | snv |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.882 | 0.080 | 1 | 150579475 | missense variant | G/A;C | snv |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1 | 150579916 | upstream gene variant | C/G | snv | 0.42 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1 | 150579916 | upstream gene variant | C/G | snv | 0.42 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.882 | 0.080 | 1 | 150579475 | frameshift variant | -/C | delins | 4.7E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 150579475 | frameshift variant | -/C | delins | 4.7E-06 |
|
Cardiovascular Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.882 | 0.080 | 1 | 150579475 | frameshift variant | -/C | delins | 4.7E-06 |
|
Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 |