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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv |
|
0.900 | 1.000 | 58 | 1991 | 2019 | |||||||||
|
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 | ||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.900 | 1.000 | 33 | 2009 | 2020 | |||||||
|
0.790 | 0.240 | 21 | 25891858 | missense variant | G/C | snv |
|
0.760 | 1.000 | 26 | 1991 | 2016 | |||||||||
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.840 | 25 | 2000 | 2017 | |||||||
|
0.763 | 0.160 | 21 | 25891796 | missense variant | C/T | snv | 9.5E-05 | 6.3E-05 |
|
0.730 | 1.000 | 25 | 1991 | 2017 | |||||||
|
0.752 | 0.160 | 8 | 27607002 | intron variant | T/C | snv | 0.56 |
|
0.900 | 0.913 | 23 | 2009 | 2018 | ||||||||
|
0.752 | 0.280 | 11 | 86157598 | downstream gene variant | T/C | snv | 0.70 |
|
0.900 | 0.826 | 23 | 2009 | 2019 | ||||||||
|
0.851 | 0.080 | 21 | 25891790 | missense variant | C/T | snv |
|
0.730 | 1.000 | 23 | 1991 | 2019 | |||||||||
|
0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv |
|
0.100 | 0.955 | 22 | 1997 | 2020 | |||||||||
|
0.851 | 0.080 | 21 | 25891783 | missense variant | A/C | snv |
|
0.710 | 1.000 | 21 | 1991 | 2005 | |||||||||
|
0.925 | 0.080 | 21 | 25897605 | missense variant | C/G;T | snv |
|
0.720 | 1.000 | 21 | 1991 | 2019 | |||||||||
|
0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 |
|
0.900 | 0.950 | 20 | 2009 | 2019 | ||||||||
|
0.882 | 0.080 | 21 | 25891787 | missense variant | T/A;C | snv |
|
0.700 | 1.000 | 20 | 1991 | 2004 | |||||||||
|
0.882 | 0.080 | 21 | 25891793 | missense variant | T/C | snv |
|
0.700 | 1.000 | 20 | 1991 | 2004 | |||||||||
|
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 | |||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.900 | 1.000 | 17 | 2009 | 2019 | |||||||||
|
0.851 | 0.160 | 19 | 51224706 | upstream gene variant | C/A | snv | 0.25 |
|
0.900 | 1.000 | 16 | 2011 | 2019 | ||||||||
|
0.882 | 0.120 | 10 | 103458495 | missense variant | AGC/GGT | mnv |
|
0.100 | 0.933 | 15 | 2008 | 2016 | |||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.890 | 0.933 | 15 | 2005 | 2019 | |||||||
|
0.882 | 0.120 | 10 | 103458488 | frameshift variant | CAGCGGCC/- | delins |
|
0.100 | 0.933 | 15 | 2008 | 2016 | |||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.810 | 1.000 | 14 | 2009 | 2019 |