MCF2L, MCF.2 cell line derived transforming sequence like, 23263
N. diseases: 124; N. variants: 23
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 112981842 | intron variant | C/T | snv | 0.21 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
13 | 113098517 | 3 prime UTR variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 113098850 | 3 prime UTR variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1.000 | 0.040 | 13 | 113005392 | intron variant | G/A | snv | 0.25 |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 13 | 112977466 | intron variant | A/C;T | snv |
|
Cardiovascular Diseases | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 13 | 113040195 | intron variant | A/G | snv | 0.12 |
|
Musculoskeletal Diseases | 0.810 | 1.000 | 2 | 2011 | 2015 | |||||||
|
13 | 113097743 | 3 prime UTR variant | A/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 113043357 | non coding transcript exon variant | G/A | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 113098925 | 3 prime UTR variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 113074184 | intron variant | C/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
13 | 113080062 | intron variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 13 | 113096786 | missense variant | G/A;C | snv | 1.1E-05; 1.1E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 13 | 113087292 | missense variant | G/A | snv | 1.4E-05 |
|
Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
13 | 112981842 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||||
|
13 | 112980623 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
13 | 113098517 | 3 prime UTR variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 113095331 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 113095161 | 3 prime UTR variant | G/A;C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 113098850 | 3 prime UTR variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 113082763 | intron variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 113086288 | intron variant | G/A | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
13 | 113082830 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
13 | 113089454 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
13 | 113090355 | intron variant | A/G | snv | 0.83 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 113094376 | non coding transcript exon variant | C/T | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |