| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 99788078 | upstream gene variant | C/T | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 99656452 | intron variant | A/G | snv | 0.95 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 99527615 | intron variant | C/T | snv | 2.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 99105926 | intron variant | C/G | snv | 2.1E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
15 | 98743544 | intron variant | C/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 98678114 | intron variant | C/T | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 97933921 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
7 | 95316432 | intron variant | C/T | snv | 3.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 9527801 | stop gained | T/A;C | snv | 1.6E-02 | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 94427041 | missense variant | G/A;T | snv | 3.7E-04 | 1.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2011 | 2018 | ||||||||
|
10 | 93079967 | downstream gene variant | G/T | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
10 | 93079885 | downstream gene variant | G/A | snv | 0.42 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||||
|
10 | 92649992 | splice region variant | T/C | snv | 9.1E-03 | 3.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
7 | 92235633 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
5 | 91107358 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
5 | 90803516 | intron variant | T/G | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 89004160 | intron variant | T/C | snv | 9.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 88663768 | upstream gene variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
12 | 885321 | missense variant | G/C | snv | 1.00 | 0.99 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
6 | 88141968 | 3 prime UTR variant | G/T | snv | 2.7E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 87109109 | intron variant | G/T | snv | 0.56 |
|
0.800 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
4 | 87102147 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 87084051 | intron variant | G/A | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
10 | 82015079 | intron variant | T/C | snv | 5.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |