| 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 | 21378943 | regulatory region variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 126665850 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
5 | 174283195 | intergenic variant | T/- | del | 0.34 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 156229203 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 54566349 | intron variant | -/CT | delins | 0.31 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 124678475 | non coding transcript exon variant | T/- | delins | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
19 | 32967573 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
9 | 22056214 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 8563820 | intron variant | G/A | snv | 5.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
0.776 | 0.240 | 14 | 64415662 | missense variant | A/G | snv | 0.83 | 0.83 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 237719866 | intron variant | C/T | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.724 | 0.520 | 7 | 22728408 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2019 | |||||||||
|
3 | 96431316 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
21 | 13377702 | intergenic variant | G/A | snv | 8.1E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 42267463 | non coding transcript exon variant | T/C | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
13 | 18865983 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 88928621 | intron variant | T/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
10 | 5045786 | intron variant | G/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 31147066 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
17 | 62516455 | non coding transcript exon variant | G/A | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 102438768 | intergenic variant | C/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
7 | 92134309 | missense variant | A/G | snv | 4.3E-06 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
12 | 130437119 | missense variant | G/A;C | snv | 9.2E-06; 5.3E-04 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |