TOMM40, translocase of outer mitochondrial membrane 40, 10452
N. diseases: 113; N. variants: 34
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
Nervous System Diseases; Mental Disorders | 0.900 | 1.000 | 33 | 2009 | 2020 | ||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
Nervous System Diseases; Mental Disorders | 0.810 | 1.000 | 14 | 2009 | 2019 | |||||||
|
0.807 | 0.200 | 19 | 44899792 | intron variant | TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | delins |
|
Nervous System Diseases; Mental Disorders | 0.100 | 0.900 | 10 | 2012 | 2017 | ||||||||
|
1.000 | 0.080 | 19 | 44898409 | intron variant | A/G | snv | 0.36 |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 10 | 2009 | 2019 | |||||||
|
0.851 | 0.160 | 19 | 44892962 | intron variant | C/T | snv | 0.24 | 0.29 |
|
Nervous System Diseases; Mental Disorders | 0.810 | 1.000 | 7 | 2010 | 2019 | ||||||
|
1.000 | 0.080 | 19 | 44901434 | 3 prime UTR variant | A/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 3 | 2009 | 2012 | |||||||
|
1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 2 | 2013 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 44902242 | 3 prime UTR variant | G/A | snv | 1.7E-02 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 44900601 | intron variant | A/G | snv | 0.52 |
|
Nervous System Diseases; Mental Disorders | 0.800 | 1.000 | 2 | 2013 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 44901715 | 3 prime UTR variant | T/C;G | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 19 | 44901805 | 3 prime UTR variant | A/G;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 19 | 44892887 | synonymous variant | C/T | snv | 0.13 | 0.13 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 19 | 44900667 | intron variant | C/T | snv | 3.9E-02 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.080 | 19 | 44895376 | intron variant | G/C | snv | 0.12 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 44890259 | intron variant | C/T | snv | 7.3E-03 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 44900801 | missense variant | C/T | snv | 4.9E-04 | 5.7E-04 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.925 | 0.080 | 19 | 44892457 | synonymous variant | T/C | snv | 0.25 | 0.29 |
|
Nervous System Diseases; Mental Disorders | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
0.882 | 0.160 | 19 | 44895459 | intron variant | A/C | snv | 0.60 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.080 | 19 | 44892652 | intron variant | C/G | snv | 0.12 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
1.000 | 0.080 | 19 | 44899461 | intron variant | G/A;C | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 44901322 | missense variant | G/A;T | snv | 3.7E-05; 9.7E-03 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.080 | 19 | 44890947 | intron variant | G/A | snv | 1.7E-03 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.851 | 0.080 | 19 | 44893408 | intron variant | G/A;T | snv |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||
|
1.000 | 0.080 | 19 | 44897490 | intron variant | T/A | snv | 5.6E-02 |
|
Nervous System Diseases; Mental Disorders | 0.700 | 1.000 | 1 | 2018 | 2018 |