DOCK7, dedicator of cytokinesis 7, 85440
N. diseases: 51; N. variants: 192
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 | 62560271 | intron variant | G/T | snv | 0.57 |
|
0.800 | 1.000 | 5 | 2010 | 2019 | ||||||||||
|
0.851 | 0.120 | 1 | 62583922 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2008 | 2019 | |||||||||
|
1 | 62652525 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2019 | |||||||||||
|
1 | 62465961 | intron variant | C/A | snv | 0.57 |
|
0.800 | 1.000 | 3 | 2009 | 2019 | ||||||||||
|
1.000 | 0.120 | 1 | 62531167 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||
|
1 | 62458777 | non coding transcript exon variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1 | 62612551 | intron variant | A/T | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 62583880 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
1.000 | 0.040 | 1 | 62584148 | 3 prime UTR variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||
|
1 | 62590441 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
1 | 62584927 | intron variant | T/G | snv | 0.33 | 0.34 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1 | 62658794 | intron variant | T/G | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | ||||||||||
|
1 | 62625187 | synonymous variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 62606594 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 62596235 | intron variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 62639867 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 62589609 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 62499950 | intron variant | T/A;G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 62668259 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 62641855 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |