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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 6 | 111352511 | intron variant | T/A;C | snv |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 3 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 6 | 111334327 | intron variant | G/A | snv | 8.7E-02 |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 2 | 2010 | 2015 | |||||||
|
0.925 | 0.080 | 6 | 111374888 | missense variant | T/C | snv | 5.9E-02 | 5.6E-02 |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
6 | 111388386 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111428522 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111441390 | intron variant | C/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111310704 | non coding transcript exon variant | C/G | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 6 | 111405476 | missense variant | T/A | snv | 8.7E-06 |
|
Digestive System Diseases; Neoplasms | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
6 | 111299091 | 3 prime UTR variant | A/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111467188 | intron variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111358666 | intron variant | G/C;T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111383334 | intron variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111394035 | intron variant | T/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111396929 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111398927 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111401176 | intron variant | G/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111404696 | non coding transcript exon variant | A/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111409043 | intron variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111404943 | non coding transcript exon variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111377001 | intron variant | T/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111403957 | intron variant | A/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111391515 | intron variant | C/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111448321 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 111326854 | intron variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111463037 | intron variant | C/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |