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 | 35363996 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
20 | 35384175 | intron variant | A/C | snv | 8.5E-02 | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
20 | 35384175 | intron variant | A/C | snv | 8.5E-02 | 6.1E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.040 | 20 | 35371345 | intron variant | T/-;TT;TTT;TTTT | delins |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 20 | 35371345 | intron variant | T/-;TT;TTT;TTTT | delins |
|
Musculoskeletal Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
20 | 35308144 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
20 | 35308144 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35308144 | intron variant | C/T | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 35302258 | downstream gene variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.200 | 20 | 35326405 | intron variant | A/G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.200 | 20 | 35326405 | intron variant | A/G | snv | 0.49 |
|
Neoplasms; Male Urogenital Diseases; Endocrine System Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.200 | 20 | 35326405 | intron variant | A/G | snv | 0.49 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
20 | 35333172 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 35333172 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 35321981 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
20 | 35321981 | intron variant | C/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
20 | 35387378 | intron variant | C/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
20 | 35325488 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 35325488 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 35400311 | intron variant | A/G | snv | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 35309781 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 35309781 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
20 | 35380264 | intron variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
20 | 35306660 | splice region variant | A/G | snv | 0.42 | 0.49 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |