| 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 | 1 | 153561551 | missense variant | C/T | snv | 7.1E-02 | 0.16 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 3 | 37048550 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 2 | 47475030 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 9 | 113262744 | 3 prime UTR variant | A/C | snv | 0.47 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 9 | 121289122 | intron variant | A/G | snv | 0.70 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 121267901 | intron variant | T/C | snv | 0.37 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 33674679 | non coding transcript exon variant | C/T | snv | 0.21 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 1 | 162772032 | missense variant | G/A | snv | 7.8E-04 | 2.9E-03 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.807 | 0.040 | 6 | 475489 | non coding transcript exon variant | C/T | snv | 0.11 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 2 | 47403398 | synonymous variant | G/A;C;T | snv | 4.5E-06; 4.5E-06 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 8 | 55950487 | missense variant | C/G | snv | 4.0E-06 | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 3 | 179232509 | intron variant | C/T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 11 | 21209124 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 9 | 113221260 | 5 prime UTR variant | G/A | snv | 0.16 | 0.13 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1.000 | 0.040 | 1 | 1211863 | intron variant | A/C | snv | 8.1E-02 | 8.2E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 47466820 | intron variant | G/A;T | snv | 0.34; 4.0E-06 | 0.40 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 19 | 45341392 | intron variant | C/G;T | snv | 0.44 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 11 | 67586503 | missense variant | C/G;T | snv | 7.6E-05 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 11 | 102795585 | synonymous variant | T/C | snv | 0.92 | 0.95 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 1 | 153563811 | stop gained | G/A | snv | 2.2E-04 | 3.4E-04 |
|
0.010 | 1.000 | 1 | 2009 | 2009 | |||||||
|
1.000 | 0.040 | 11 | 102790143 | 3 prime UTR variant | G/A | snv | 0.29 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 10 | 67849782 | non coding transcript exon variant | C/A | snv | 0.60 |
|
0.010 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 19 | 11978928 | missense variant | C/G;T | snv | 4.0E-06; 1.7E-02 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.040 | 12 | 95980836 | missense variant | C/T | snv | 0.85 | 0.86 |
|
0.010 | < 0.001 | 1 | 2008 | 2008 | |||||||
|
1.000 | 0.040 | 12 | 7938243 | upstream gene variant | T/C | snv | 0.59 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |