REV3L, REV3 like, DNA directed polymerase zeta catalytic subunit, 5980
N. diseases: 95; N. variants: 94
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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 111407330 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111338619 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111339440 | intron variant | G/A | snv | 0.67 |
|
Behavior and Behavior Mechanisms | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
6 | 111328113 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.882 | 0.160 | 6 | 111307423 | missense variant | C/T | snv | 0.10 | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
6 | 111307394 | synonymous variant | C/G;T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111374926 | synonymous variant | T/A | snv | 0.11 | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 111438496 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 111340899 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111346596 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111354313 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111378165 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111374065 | synonymous variant | C/G;T | snv | 4.0E-06; 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111353598 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111311725 | non coding transcript exon variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111366447 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111320647 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.925 | 0.080 | 6 | 111374888 | missense variant | T/C | snv | 5.9E-02 | 5.6E-02 |
|
Skin and Connective Tissue Diseases; Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 111375649 | synonymous variant | T/C | snv | 0.47 | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 111332674 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111338552 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111362537 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 111352008 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 111352004 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 111347804 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |