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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.240 | 2 | 29220831 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 15 | 2008 | 2019 | |||||||||
|
0.776 | 0.200 | 2 | 29220829 | missense variant | G/C;T | snv |
|
0.100 | 1.000 | 15 | 2008 | 2019 | |||||||||
|
0.605 | 0.520 | 21 | 31667299 | missense variant | G/A;C;T | snv | 1.2E-05; 8.0E-06 |
|
0.100 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
0.827 | 0.120 | 2 | 29209798 | missense variant | C/A;T | snv |
|
0.100 | 0.900 | 10 | 2011 | 2019 | |||||||||
|
0.790 | 0.120 | 17 | 51161744 | missense variant | A/G | snv | 6.0E-05 | 7.0E-05 |
|
0.080 | 1.000 | 8 | 1995 | 2018 | |||||||
|
0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv |
|
0.060 | 1.000 | 6 | 2003 | 2018 | |||||||||
|
0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv |
|
0.050 | 1.000 | 5 | 2003 | 2018 | |||||||||
|
0.827 | 0.200 | 11 | 8231306 | intron variant | A/G | snv | 0.42 |
|
0.050 | 1.000 | 5 | 2015 | 2020 | ||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
0.050 | 1.000 | 5 | 1998 | 2013 | |||||||||
|
0.882 | 0.080 | 11 | 8221479 | downstream gene variant | A/G | snv | 0.49 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.742 | 0.160 | 21 | 31663829 | missense variant | G/A;C | snv |
|
0.040 | 1.000 | 4 | 2002 | 2011 | |||||||||
|
0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv |
|
0.040 | 1.000 | 4 | 2006 | 2020 | |||||||||
|
0.882 | 0.080 | 11 | 8256650 | intron variant | C/T | snv | 0.49 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.882 | 0.080 | 11 | 8217092 | intergenic variant | G/A | snv | 0.42 |
|
0.040 | 1.000 | 4 | 2016 | 2020 | ||||||||
|
0.851 | 0.160 | 6 | 22139775 | intron variant | A/G | snv | 0.62 |
|
0.040 | 1.000 | 4 | 2008 | 2017 | ||||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.030 | 1.000 | 3 | 2017 | 2019 | ||||||||
|
0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv |
|
0.030 | 1.000 | 3 | 1999 | 2007 | |||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.030 | 1.000 | 3 | 2010 | 2014 | |||||||
|
0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 |
|
0.030 | 1.000 | 3 | 2009 | 2018 | ||||||||
|
0.827 | 0.200 | 11 | 8233861 | intron variant | C/A | snv | 0.24 |
|
0.030 | 1.000 | 3 | 2018 | 2020 | ||||||||
|
0.882 | 0.080 | 6 | 22125735 | intron variant | T/C;G | snv |
|
0.030 | 1.000 | 3 | 2016 | 2017 | |||||||||
|
0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv |
|
0.030 | 1.000 | 3 | 1998 | 2001 | |||||||||
|
0.827 | 0.160 | 2 | 214807822 | intron variant | G/A;C;T | snv |
|
0.030 | 1.000 | 3 | 2013 | 2019 | |||||||||
|
0.882 | 0.080 | 6 | 22131700 | intron variant | C/A | snv | 0.58 |
|
0.030 | 1.000 | 3 | 2016 | 2017 | ||||||||
|
0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.020 | 1.000 | 2 | 2018 | 2019 |