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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv | 0.100 | 1.000 | 15 | 2008 | 2019 | |||||
|
12 | 0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv | 0.100 | 1.000 | 15 | 2008 | 2019 | |||||
|
12 | 0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv | 0.100 | 0.900 | 10 | 2011 | 2019 | |||||
|
8 | 0.827 | 0.200 | 11 | 8231306 | intron variant | A/G | snv | 0.42 | 0.850 | 1.000 | 7 | 2011 | 2020 | ||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.060 | 1.000 | 6 | 2003 | 2018 | |||||
|
3 | 0.882 | 0.080 | 6 | 22125735 | intron variant | T/C;G | snv | 0.830 | 1.000 | 6 | 2008 | 2017 | |||||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.050 | 1.000 | 5 | 2003 | 2018 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.050 | 1.000 | 5 | 1998 | 2013 | |||||
|
3 | 0.882 | 0.080 | 6 | 22131700 | intron variant | C/A | snv | 0.58 | 0.830 | 1.000 | 5 | 2008 | 2017 | ||||
|
3 | 0.882 | 0.080 | 11 | 8221479 | downstream gene variant | A/G | snv | 0.49 | 0.040 | 1.000 | 4 | 2016 | 2020 | ||||
|
11 | 0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv | 0.040 | 1.000 | 4 | 2002 | 2011 | |||||
|
9 | 0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2006 | 2020 | |||||
|
3 | 0.882 | 0.080 | 11 | 8256650 | intron variant | C/T | snv | 0.49 | 0.040 | 1.000 | 4 | 2016 | 2020 | ||||
|
7 | 0.827 | 0.200 | 11 | 8233861 | intron variant | C/A | snv | 0.24 | 0.730 | 1.000 | 4 | 2017 | 2020 | ||||
|
4 | 0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 | 0.820 | 1.000 | 4 | 2009 | 2019 | ||||
|
3 | 0.882 | 0.080 | 11 | 8217092 | intergenic variant | G/A | snv | 0.42 | 0.040 | 1.000 | 4 | 2016 | 2020 | ||||
|
5 | 0.827 | 0.160 | 2 | 214807822 | intron variant | G/A;C;T | snv | 0.830 | 1.000 | 4 | 2009 | 2019 | |||||
|
4 | 0.851 | 0.160 | 6 | 22139775 | intron variant | A/G | snv | 0.62 | 0.840 | 1.000 | 4 | 2008 | 2017 | ||||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 1999 | 2007 | |||||
|
3 | 0.882 | 0.080 | 2 | 214778776 | intron variant | C/T | snv | 0.16 | 0.810 | 1.000 | 3 | 2009 | 2019 | ||||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.030 | 1.000 | 3 | 2009 | 2018 | ||||
|
5 | 0.851 | 0.080 | 17 | 51171503 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 1995 | 1999 | |||||
|
6 | 0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv | 0.030 | 1.000 | 3 | 1998 | 2001 | |||||
|
4 | 0.882 | 0.080 | 11 | 43706780 | intron variant | T/C | snv | 0.36 | 0.810 | 1.000 | 2 | 2012 | 2017 | ||||
|
17 | 0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 | 0.020 | 1.000 | 2 | 2018 | 2019 |