Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.360 | 22 | 23893562 | intron variant | -/ATTC | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 173363490 | non coding transcript exon variant | A/C | snv | 0.79 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 219833404 | intergenic variant | A/C | snv | 0.39 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.280 | 16 | 85958099 | intergenic variant | A/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.827 | 0.320 | 6 | 32438565 | upstream gene variant | A/C | snv | 0.59 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.240 | 1 | 67336688 | intron variant | A/C | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 6 | 33130499 | downstream gene variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 15 | 75132252 | intergenic variant | A/C | snv | 0.71 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.280 | 7 | 50597225 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 31138491 | non coding transcript exon variant | A/C;G | snv | 8.1E-06; 0.33 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.760 | 0.857 | 7 | 2006 | 2019 | |||
|
7 | 0.807 | 0.280 | X | 154018741 | missense variant | A/G | snv | 0.72 | 0.030 | 1.000 | 3 | 2011 | 2017 | ||||
|
4 | 0.851 | 0.200 | 6 | 32222629 | synonymous variant | A/G | snv | 0.38 | 0.39 | 0.800 | 1.000 | 2 | 2010 | 2011 | |||
|
1 | 1.000 | 0.040 | 14 | 59042487 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 1 | 173287411 | intergenic variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
12 | 0.827 | 0.200 | 12 | 112433568 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.851 | 0.160 | 4 | 971932 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 6 | 34959503 | intron variant | A/G | snv | 0.47 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 16 | 31269826 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2013 | 2013 |