| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 99596167 | intron variant | C/T | snv | 7.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 99302913 | downstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
4 | 99093654 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2013 | 2017 | ||||||||||
|
0.882 | 0.080 | 4 | 958159 | missense variant | T/C | snv | 0.18 | 0.14 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
1 | 93396463 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1 | 93352389 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 1 | 93350843 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 8 | 9329732 | intron variant | A/G | snv | 0.88 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1.000 | 8 | 9327636 | intron variant | T/C | snv | 0.87 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | |||||||||
|
0.925 | 0.040 | 8 | 9327181 | intron variant | T/C | snv | 0.88 |
|
0.700 | 1.000 | 3 | 2011 | 2019 | ||||||||
|
0.882 | 0.040 | 8 | 9326721 | intron variant | G/A | snv | 0.87 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||
|
8 | 9326086 | non coding transcript exon variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 6 | 2015 | 2019 | ||||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 7 | 2010 | 2019 | ||||||||
|
8 | 9323885 | intron variant | A/G | snv | 0.87 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 93169033 | intron variant | C/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
10 | 93079967 | downstream gene variant | G/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
10 | 93024020 | intron variant | C/G | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.851 | 0.120 | 14 | 92945686 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 9 | 90801254 | upstream gene variant | A/G | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
15 | 89671546 | missense variant | A/G | snv | 3.1E-04 | 4.0E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
12 | 8929985 | intron variant | A/G | snv | 8.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 88820118 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2013 | 2018 | |||||||||||
|
4 | 88818977 | intron variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |