| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 59165543 | intergenic variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 40855903 | intron variant | G/A | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 40825304 | intron variant | C/A | snv | 3.5E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 19 | 40833991 | intron variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1 | 210504207 | intron variant | A/G | snv | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 5212643 | intron variant | C/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 108816727 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 25818994 | intergenic variant | C/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 92624658 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 31268790 | 3 prime UTR variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
12 | 53955989 | intron variant | G/A | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
3 | 129615390 | intergenic variant | C/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 26318431 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
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 | ||||||||||
|
9 | 104973639 | intron variant | C/A | snv | 9.0E-02 |
|
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 | |||||||||
|
11 | 64095140 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 2 | 164672114 | intron variant | G/C;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 |