| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 21986848 | intron variant | T/A | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||||
|
3 | 123121029 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
15 | 63041525 | upstream gene variant | A/G | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
1.000 | 6 | 31354590 | non coding transcript exon variant | T/G | snv | 7.7E-02 | 2.3E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
17 | 19900934 | upstream gene variant | T/C | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.120 | 6 | 33007237 | non coding transcript exon variant | T/C | snv | 0.40 | 0.40 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
9 | 4744743 | intron variant | T/C | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
13 | 95245953 | intron variant | A/G | snv | 0.91 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 4792339 | upstream gene variant | C/A;G;T | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
12 | 54342686 | intron variant | A/C;G | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
10 | 63203689 | intron variant | T/C | snv | 0.43 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
6 | 25548060 | intron variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
9 | 4834394 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
7 | 123771169 | intergenic variant | A/C | snv | 6.5E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2014 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 119229196 | intron variant | G/C | snv | 6.0E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
16 | 23754453 | non coding transcript exon variant | G/A | snv | 7.7E-02 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.120 | 6 | 33573942 | intron variant | A/G | snv | 0.51 | 0.51 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | |||||||
|
17 | 29487478 | intron variant | C/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||||
|
0.851 | 0.280 | 17 | 4933086 | missense variant | C/T | snv | 9.8E-02 | 0.13 |
|
0.800 | 1.000 | 1 | 2010 | 2011 | |||||||
|
0.925 | 0.080 | 3 | 184372478 | 3 prime UTR variant | C/G;T | snv | 4.0E-06; 0.56 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
2 | 31259434 | intron variant | A/G | snv | 0.82 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.925 | 0.080 | 8 | 105569300 | intron variant | A/T | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2011 | 2019 |