| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.320 | X | 154773148 | missense variant | A/G | snv |
|
0.700 | 0 | ||||||||||||
|
0.763 | 0.280 | 15 | 82240555 | missense variant | T/C | snv | 8.2E-06 |
|
0.700 | 0 | |||||||||||
|
0.658 | 0.360 | 9 | 83975540 | non coding transcript exon variant | T/C | snv |
|
0.700 | 0 | ||||||||||||
|
0.851 | 0.360 | 8 | 99134644 | stop gained | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.742 | 0.280 | 22 | 38113561 | missense variant | G/A | snv | 8.0E-06 |
|
0.700 | 0 | |||||||||||
|
0.851 | 0.120 | X | 153580229 | missense variant | G/A;T | snv | 5.5E-06 |
|
0.700 | 0 | |||||||||||
|
0.683 | 0.280 | 8 | 115604339 | stop gained | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.080 | X | 11295537 | intron variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | X | 11295613 | intron variant | T/C | snv | 0.33 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 11 | 30435270 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.040 | 4 | 72551807 | intron variant | G/A | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 8 | 27559284 | upstream gene variant | G/A | snv | 4.8E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.752 | 0.320 | 11 | 102955810 | upstream gene variant | C/T | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 14 | 54409466 | intron variant | T/C | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 6 | 166763934 | intron variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.160 | 17 | 78930194 | upstream gene variant | G/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 10 | 52768362 | synonymous variant | A/G | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
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 | ||||||||
|
1.000 | 0.040 | 7 | 105633273 | intron variant | A/C | snv | 6.2E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 98883280 | intergenic variant | A/G | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 17 | 27240054 | intron variant | C/T | snv | 9.3E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 4 | 147361190 | regulatory region variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 |