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 | 26 | 1991 | 2019 | |||||||||
|
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 | ||||||||
|
0.882 | 0.120 | 10 | 103458495 | missense variant | AGC/GGT | mnv |
|
0.100 | 0.933 | 15 | 2008 | 2016 | |||||||||
|
0.882 | 0.120 | 10 | 103458488 | frameshift variant | CAGCGGCC/- | delins |
|
0.100 | 0.933 | 15 | 2008 | 2016 | |||||||||
|
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 | ||||||||
|
0.790 | 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 | ||||||||
|
0.776 | 0.200 | 1 | 207518704 | intron variant | A/G;T | snv |
|
0.900 | 1.000 | 11 | 2009 | 2019 | |||||||||
|
0.807 | 0.200 | 19 | 44899792 | intron variant | TTTTTTTTTTTTTTTTTTTTTTT/-;T;TT;TTT;TTTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTT;TTTTTTTTT;TTTTTTTTTT;TTTTTTTTTTT;TTTTTTTTTTTT;TTTTTTTTTTTTT;TTTTTTTTTTTTTT;TTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT;TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT | delins |
|
0.100 | 0.900 | 10 | 2012 | 2017 | |||||||||
|
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 | ||||||||
|
0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv |
|
0.790 | 1.000 | 9 | 2001 | 2019 | |||||||||
|
0.851 | 0.080 | 1 | 207611623 | intron variant | A/G | snv | 0.74 |
|
0.880 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.708 | 0.120 | 17 | 44352876 | 3 prime UTR variant | C/T | snv | 0.41 |
|
0.080 | 1.000 | 8 | 2009 | 2017 | ||||||||
|
0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv |
|
0.080 | 1.000 | 8 | 2003 | 2019 | |||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 0.714 | 7 | 2002 | 2017 | |||||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
0.070 | 1.000 | 7 | 2000 | 2014 | |||||||||
|
0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 |
|
0.060 | 0.833 | 6 | 2008 | 2017 |