TERT, telomerase reverse transcriptase, 7015
N. diseases: 703; N. variants: 97
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.750 | 1.000 | 11 | 2011 | 2019 | |||||||
|
0.649 | 0.320 | 5 | 1295234 | upstream gene variant | A/G | snv | 0.25 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.740 | 0.800 | 5 | 2016 | 2018 | |||||||
|
0.724 | 0.400 | 5 | 1279913 | intron variant | G/A | snv | 0.18 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2013 | 2016 | |||||||
|
0.790 | 0.160 | 5 | 1282204 | intron variant | C/A | snv | 0.29 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.710 | 1.000 | 2 | 2015 | 2016 | |||||||
|
1.000 | 0.080 | 5 | 1296140 | upstream gene variant | -/G | delins | 0.25 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||||
|
0.708 | 0.280 | 5 | 1282299 | intron variant | G/A | snv | 0.38 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 0.750 | 4 | 2013 | 2018 | ||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.040 | 0.750 | 4 | 2015 | 2019 | |||||||
|
0.689 | 0.400 | 5 | 1296371 | upstream gene variant | A/G | snv | 0.49 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 0.333 | 3 | 2017 | 2019 | |||||||
|
0.851 | 0.120 | 5 | 1296644 | upstream gene variant | C/T | snv | 0.32 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.030 | 0.667 | 3 | 2011 | 2018 | |||||||
|
0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2012 | 2018 | |||||||
|
0.667 | 0.560 | 5 | 1288432 | intron variant | T/A;C | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.827 | 0.120 | 5 | 1267241 | intron variant | T/A | snv | 0.23 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |