| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 4 | 129748953 | non coding transcript exon variant | T/C | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 4 | 105185196 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
4 | 130143535 | intergenic variant | A/C | snv | 8.3E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 102203874 | intergenic variant | T/C | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
19 | 2206576 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 63666886 | intergenic variant | G/A | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 5 | 88638889 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
5 | 88644208 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
14 | 72996771 | intron variant | G/A | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 1 | 90724174 | non coding transcript exon variant | C/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
14 | 103552118 | upstream gene variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 32813026 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 98081411 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
14 | 32835225 | 3 prime UTR variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 14 | 103551616 | upstream gene variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
2 | 73383615 | intron variant | C/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 100703250 | regulatory region variant | G/T | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 165677305 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 154607197 | intergenic variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 2 | 60486100 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||
|
2 | 143405040 | intron variant | A/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 143505711 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
2 | 160524377 | intergenic variant | G/A | snv | 0.45 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
2 | 73490529 | missense variant | A/G | snv | 0.26 | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |