UQCC1, ubiquinol-cytochrome c reductase complex assembly factor 1, 55245
N. diseases: 13; N. variants: 27
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 35319358 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 4 | 2008 | 2019 | ||||||||||
|
20 | 35319358 | intron variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||||
|
0.925 | 0.200 | 20 | 35326405 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 2 | 2008 | 2019 | ||||||||
|
20 | 35387378 | intron variant | C/A | snv | 0.54 |
|
0.700 | 1.000 | 2 | 2009 | 2019 | ||||||||||
|
20 | 35317816 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 35317816 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 35317816 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
20 | 35318101 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||||
|
20 | 35327015 | intron variant | G/A | snv | 6.0E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
20 | 35328993 | intron variant | G/A | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35328993 | intron variant | G/A | snv | 5.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35326442 | intron variant | T/G | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35326442 | intron variant | T/G | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35330429 | intron variant | A/G | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35330429 | intron variant | A/G | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35375371 | intron variant | T/G | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35375371 | intron variant | T/G | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.040 | 20 | 35338300 | intron variant | C/G | snv | 0.45 |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
20 | 35303201 | 3 prime UTR variant | G/A | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35303201 | 3 prime UTR variant | G/A | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35385145 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 35318770 | intron variant | C/G | snv | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35318770 | intron variant | C/G | snv | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35329284 | intron variant | C/T | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35329284 | intron variant | C/T | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |