| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 1 | 8970313 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 98883280 | intergenic variant | A/G | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.080 | 1 | 8971844 | intron variant | C/A;G;T | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.040 | 1 | 8950346 | intron variant | C/T | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 210130974 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.040 | 1 | 8949385 | missense variant | A/C | snv | 0.49 | 0.51 |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 1 | 151523320 | intron variant | T/C | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
0.925 | 0.080 | 1 | 1329774 | upstream gene variant | T/C | snv | 0.81 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 1 | 18854899 | missense variant | T/C | snv | 0.29 | 0.31 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 1 | 8970905 | missense variant | C/G;T | snv | 4.0E-06; 0.26 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 226681217 | intron variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 4608610 | intergenic variant | G/A | snv | 9.4E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 155183132 | intron variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 1 | 8979645 | non coding transcript exon variant | G/A;C;T | snv |
|
0.010 | < 0.001 | 1 | 2015 | 2015 | |||||||||
|
1.000 | 0.040 | 1 | 103822256 | intergenic variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 1 | 9372331 | downstream gene variant | C/T | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 18859635 | missense variant | G/C | snv | 0.78 | 0.79 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1.000 | 0.040 | 1 | 229150111 | intron variant | G/A | snv | 9.6E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 2 | 12828774 | intron variant | A/G | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 2 | 24918669 | missense variant | A/G | snv | 0.47 | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1.000 | 0.040 | 2 | 3686354 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.040 | 2 | 185056965 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 154813691 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 |