| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 |
|
0.820 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
1.000 | 0.120 | 4 | 164987569 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
1.000 | 0.120 | 17 | 45439036 | intron variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | 17 | 46710944 | intron variant | G/A | snv | 0.28 | 0.30 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv |
|
0.720 | 1.000 | 2 | 2010 | 2017 | |||||||||
|
0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 |
|
0.720 | 1.000 | 1 | 2016 | 2018 | |||||||
|
0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 |
|
0.710 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.595 | 0.560 | 5 | 1279675 | intron variant | C/T | snv | 0.36 |
|
0.710 | 1.000 | 1 | 2016 | 2017 | ||||||||
|
0.763 | 0.160 | 17 | 37739849 | intron variant | T/C | snv | 0.52 |
|
0.710 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.776 | 0.160 | 19 | 17283315 | missense variant | T/G | snv | 0.48 | 0.50 |
|
0.710 | 1.000 | 1 | 2010 | 2012 | |||||||
|
0.776 | 0.160 | 3 | 156679960 | intron variant | C/T | snv | 0.92 |
|
0.710 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.807 | 0.160 | 15 | 90963407 | upstream gene variant | T/C | snv | 0.19 |
|
0.710 | 1.000 | 1 | 2016 | 2017 | ||||||||
|
0.724 | 0.160 | 19 | 17278895 | synonymous variant | G/A | snv | 0.15 | 0.18 |
|
0.710 | 1.000 | 1 | 2010 | 2013 | |||||||
|
0.701 | 0.280 | 19 | 17279482 | intron variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
0.882 | 0.120 | 17 | 48334138 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2010 | 2013 | ||||||||
|
0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 7 | 11524758 | intron variant | C/G | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 13 | 61317942 | intergenic variant | -/G | ins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.120 | 9 | 135247660 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.120 | 11 | 78008566 | intergenic variant | T/C | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.120 | 9 | 16915876 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
1.000 | 0.120 | 21 | 21308069 | intron variant | TA/-;TATA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 |