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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.662 | 0.480 | 6 | 41161514 | missense variant | C/A;T | snv | 6.8E-05; 2.6E-03 |
|
0.900 | 0.923 | 52 | 2013 | 2020 | ||||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.100 | 0.889 | 45 | 2004 | 2019 | |||||||
|
0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 |
|
0.100 | 0.868 | 38 | 2004 | 2019 | ||||||||
|
0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv |
|
0.900 | 1.000 | 26 | 1991 | 2019 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.840 | 25 | 2000 | 2017 | |||||||
|
0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 |
|
0.900 | 0.826 | 22 | 2009 | 2019 | ||||||||
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
0.100 | 0.955 | 22 | 1997 | 2020 | |||||||||
|
0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 |
|
0.900 | 0.913 | 21 | 2009 | 2018 | ||||||||
|
0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 |
|
0.800 | 0.882 | 17 | 2003 | 2016 | |||||||
|
0.851 | 0.120 | 10 | 103458495 | missense variant | A/G | snv | 0.79 | 0.80 |
|
0.100 | 0.941 | 17 | 2008 | 2016 | |||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.900 | 1.000 | 15 | 2009 | 2020 | |||||||
|
0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 |
|
0.900 | 1.000 | 13 | 2011 | 2019 | ||||||||
|
0.701 | 0.240 | 1 | 226885603 | missense variant | A/T | snv |
|
0.100 | 1.000 | 13 | 1997 | 2018 | |||||||||
|
0.790 | 0.160 | 21 | 26000095 | missense variant | G/A | snv |
|
0.100 | 1.000 | 12 | 2003 | 2020 | |||||||||
|
0.790 | 0.120 | 5 | 168418786 | intron variant | C/T | snv | 0.43 |
|
0.100 | 0.917 | 12 | 2009 | 2018 | ||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 0.833 | 12 | 2009 | 2020 | |||||||
|
0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 |
|
0.100 | 0.917 | 12 | 2003 | 2019 | |||||||
|
0.790 | 0.200 | 19 | 1046521 | intron variant | T/G | snv | 0.14 |
|
0.900 | 1.000 | 11 | 2011 | 2019 | ||||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.900 | 0.950 | 11 | 2009 | 2019 | ||||||||
|
0.790 | 0.120 | 21 | 25897620 | missense variant | C/T | snv | 4.5E-04 | 3.0E-04 |
|
0.100 | 0.818 | 11 | 2012 | 2018 | |||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.900 | 1.000 | 11 | 2009 | 2019 | |||||||||
|
0.925 | 0.080 | 11 | 78380104 | intron variant | C/A | snv | 0.24 |
|
0.900 | 0.750 | 10 | 2007 | 2018 | ||||||||
|
0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv |
|
0.100 | 1.000 | 10 | 1998 | 2018 | |||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 10 | 2001 | 2017 | |||||||||
|
0.851 | 0.160 | 2 | 127137039 | downstream gene variant | A/G | snv | 0.35 |
|
0.900 | 1.000 | 10 | 2011 | 2019 |