| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 20 | 37388937 | intron variant | T/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 4 | 43211547 | intron variant | T/G | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 16 | 89388583 | intron variant | T/C | snv | 2.0E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 22 | 28796682 | non coding transcript exon variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 16 | 89960104 | intron variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 10 | 89010779 | missense variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | 1 | 162778600 | missense variant | T/A;G | snv |
|
0.700 | 1.000 | 3 | 2008 | 2013 | |||||||||
|
0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.851 | 0.040 | 12 | 94733833 | regulatory region variant | T/A;C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.040 | 3 | 189487243 | intergenic variant | T/A | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.040 | 9 | 16913838 | upstream gene variant | T/A | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.790 | 0.120 | 19 | 11091630 | intron variant | G/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 2 | 43845437 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 20 | 33917852 | upstream gene variant | G/C | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 15535090 | intron variant | G/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 71433933 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 9 | 21970929 | missense variant | G/A;C | snv | 5.6E-04 | 2.6E-03 |
|
0.700 | 0 | ||||||||||
|
0.683 | 0.320 | 11 | 89284793 | missense variant | G/A | snv | 0.18 | 0.18 |
|
0.710 | 1.000 | 2 | 2009 | 2019 | |||||||
|
0.882 | 0.080 | 18 | 36114157 | synonymous variant | G/A | snv | 0.33 | 0.30 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 7 | 55181437 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 7 | 55181438 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2014 | 2014 | |||||||||
|
1.000 | 0.040 | 13 | 32354271 | intron variant | G/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |