| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | 1 | 155208991 | missense variant | T/A | snv | 0.36 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
1 | 82478888 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 88977050 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 54383167 | intron variant | A/G | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 50509555 | intron variant | T/A | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 51025037 | intergenic variant | G/A | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 155752715 | intron variant | C/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 227004579 | 3 prime UTR variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 155225189 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
1 | 186760269 | intergenic variant | G/A | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 67006009 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 155227477 | upstream gene variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 205447536 | intron variant | C/A | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 33418145 | intron variant | T/C | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 33420920 | intron variant | C/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 51548243 | intron variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 54383154 | intron variant | G/A | snv | 9.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 113221363 | intron variant | C/G | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 121231348 | intron variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 27800417 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.882 | 0.120 | 2 | 120548864 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
2 | 226933 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 9978296 | intron variant | T/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 27801464 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |