| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 171387110 | intergenic variant | G/T | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 170403362 | intergenic variant | A/C | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 118962811 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 118988874 | intron variant | G/A | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.120 | 1 | 149920979 | upstream gene variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 218423955 | intron variant | C/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 221136075 | upstream gene variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 118954531 | intron variant | G/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 118310352 | regulatory region variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 10226118 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 184051811 | missense variant | G/A | snv | 0.33 | 0.28 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1 | 119031964 | 3 prime UTR variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 219586391 | regulatory region variant | A/G | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 210504207 | intron variant | A/G | snv | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 172383850 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 59655756 | intron variant | A/G | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 118321979 | intergenic variant | T/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 219495884 | intergenic variant | T/C | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 155018913 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 16981663 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
2 | 50521617 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
2 | 19581401 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
1.000 | 0.080 | 2 | 164672114 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 |