CDKN2A, cyclin dependent kinase inhibitor 2A, 1029
N. diseases: 1314; N. variants: 146
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 21971030 | stop gained | C/T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
9 | 21971037 | missense variant | C/A;T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
9 | 21971178 | stop gained | C/A;T | snv | 4.6E-06 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
9 | 21971154 | stop gained | C/A | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
1.000 | 0.120 | 9 | 21971097 | stop gained | C/A;G | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
0.827 | 0.160 | 9 | 21971187 | stop gained | G/A;C | snv | 4.6E-06 |
|
Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
9 | 21971029 | stop gained | C/T | snv |
|
Neoplasms | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.658 | 0.480 | 9 | 21994285 | missense variant | C/A;T | snv |
|
Neoplasms | 0.090 | 0.889 | 9 | 2006 | 2018 | ||||||||
|
0.776 | 0.240 | 9 | 21968160 | 3 prime UTR variant | G/A | snv | 0.13 |
|
Neoplasms | 0.030 | 1.000 | 3 | 2014 | 2017 | |||||||
|
0.683 | 0.320 | 9 | 21970917 | missense variant | C/A;G;T | snv | 2.1E-02 |
|
Neoplasms | 0.030 | 1.000 | 3 | 1998 | 2019 | |||||||
|
0.763 | 0.200 | 9 | 21971058 | missense variant | C/A;G;T | snv | 8.5E-06; 4.3E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||||
|
0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.040 | 9 | 21968200 | 3 prime UTR variant | C/A;G | snv | 4.0E-06; 0.88 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||||
|
9 | 21974817 | missense variant | G/C | snv | 1.3E-05 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||||||
|
0.851 | 0.080 | 9 | 21974571 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
9 | 21971203 | start lost | C/T | snv | 4.5E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||||
|
9 | 21971138 | missense variant | T/G | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.763 | 0.320 | 9 | 21984662 | intron variant | A/C;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.040 | 9 | 21970980 | missense variant | C/A;G | snv | 1.3E-03; 4.1E-06 |
|
Neoplasms | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.827 | 0.120 | 9 | 21971191 | missense variant | G/A;C;T | snv | 9.1E-06; 4.5E-06 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||||
|
0.925 | 0.080 | 9 | 21971055 | frameshift variant | C/- | delins |
|
Neoplasms | 0.010 | 1.000 | 1 | 2009 | 2009 |