| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 75341886 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
5 | 75340659 | intron variant | C/A | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
8 | 54509054 | upstream gene variant | G/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
2 | 21009932 | synonymous variant | G/A | snv | 0.39 | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||
|
0.851 | 0.240 | 2 | 21002409 | missense variant | C/T | snv | 0.70 | 0.78 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||
|
0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
2 | 118078265 | intergenic variant | G/A | snv | 5.2E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2018 | ||||||||||
|
1 | 23439740 | intron variant | C/T | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
8 | 125483576 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
1 | 25442446 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 1 | 2009 | 2018 | ||||||||||
|
10 | 17218291 | intron variant | A/G | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||||
|
1 | 62583880 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||||||
|
0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
0.925 | 0.120 | 11 | 118615352 | intron variant | T/C | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.080 | 19 | 44900155 | intron variant | C/T | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||
|
1 | 46425014 | regulatory region variant | C/T | snv | 8.9E-03 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 62465961 | intron variant | C/A | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
2 | 202667581 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 55052487 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||||||
|
16 | 56967026 | intron variant | G/A | snv | 9.4E-02 |
|
0.800 | 1.000 | 1 | 2014 | 2018 | ||||||||||
|
1.000 | 0.080 | 1 | 62726106 | regulatory region variant | C/T | snv | 0.16 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 116733008 | TF binding site variant | C/A | snv | 9.8E-02 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.120 | 5 | 75352778 | intron variant | A/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 104891145 | intron variant | G/A | snv | 9.1E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2018 |