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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 45767194 | intron variant | T/G | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
18 | 43188344 | intergenic variant | A/T | snv | 0.43 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
15 | 74035775 | missense variant | A/C;G | snv | 0.52 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
6 | 80144753 | intron variant | T/C | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 23735787 | intron variant | T/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
14 | 25458973 | intergenic variant | C/A | snv | 0.37 |
|
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 | 20391962 | intron variant | C/T | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
19 | 47093845 | non coding transcript exon variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 1 | 218451191 | intergenic variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
7 | 128769958 | 3 prime UTR variant | G/A | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1 | 218432267 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
3 | 25058285 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.040 | 7 | 25831489 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
10 | 94133757 | intron variant | A/G | snv | 0.49 |
|
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 | |||||||||||
|
12 | 26321934 | intron variant | G/A | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 28318386 | intron variant | G/A | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
12 | 4808002 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
12 | 54027692 | intron variant | C/A;G | 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 | ||||||||||
|
1 | 119004219 | upstream gene variant | C/T | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |