| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 |
|
0.820 | 1.000 | 11 | 2007 | 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 | |||||||||
|
0.882 | 0.120 | 19 | 1063444 | intron variant | A/C;G | snv |
|
0.860 | 1.000 | 10 | 2013 | 2019 | |||||||||
|
0.763 | 0.160 | 21 | 25897626 | missense variant | T/A;G | snv |
|
0.100 | 1.000 | 10 | 1998 | 2018 | |||||||||
|
0.882 | 0.200 | 21 | 25891853 | missense variant | C/T | snv |
|
0.720 | 1.000 | 10 | 2001 | 2019 | |||||||||
|
0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv |
|
0.100 | 1.000 | 10 | 2001 | 2017 | |||||||||
|
1.000 | 0.080 | 19 | 44898409 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 10 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 19 | 44825957 | downstream gene variant | T/G | snv | 0.28 |
|
0.800 | 1.000 | 9 | 2009 | 2019 | ||||||||
|
0.776 | 0.200 | 21 | 25891855 | missense variant | T/C | snv |
|
0.790 | 1.000 | 9 | 2001 | 2019 | |||||||||
|
0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 |
|
0.810 | 1.000 | 9 | 2009 | 2017 | ||||||||
|
0.925 | 0.080 | 11 | 121564878 | intron variant | T/A;C | snv |
|
0.830 | 1.000 | 8 | 2013 | 2019 | |||||||||
|
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 | |||||||||
|
1.000 | 0.080 | 2 | 127135234 | regulatory region variant | C/T | snv | 0.39 |
|
0.820 | 1.000 | 8 | 2013 | 2019 | ||||||||
|
0.882 | 0.120 | 8 | 27337604 | intron variant | T/C | snv | 0.32 |
|
0.830 | 1.000 | 7 | 2013 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.070 | 0.714 | 7 | 2002 | 2017 | |||||||||
|
0.851 | 0.080 | 11 | 86077309 | regulatory region variant | C/T | snv | 0.71 |
|
0.760 | 0.857 | 7 | 2011 | 2019 | ||||||||
|
0.776 | 0.160 | 14 | 73192832 | missense variant | C/A | snv |
|
0.070 | 1.000 | 7 | 2000 | 2014 | |||||||||
|
1.000 | 0.080 | 11 | 86156833 | downstream gene variant | A/G | snv | 0.70 |
|
0.800 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.925 | 0.080 | 7 | 143413669 | intron variant | G/A | snv | 0.42 |
|
0.810 | 1.000 | 6 | 2011 | 2019 | ||||||||
|
0.851 | 0.200 | 8 | 27598736 | non coding transcript exon variant | T/C | snv | 0.69 |
|
0.840 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 |
|
0.060 | 0.833 | 6 | 2008 | 2017 | ||||||||
|
0.851 | 0.080 | 8 | 27610169 | intron variant | C/G;T | snv |
|
0.820 | 1.000 | 6 | 2013 | 2019 | |||||||||
|
0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv |
|
0.050 | 0.600 | 5 | 2005 | 2015 | |||||||||
|
0.701 | 0.320 | 3 | 120094435 | upstream gene variant | A/G | snv | 0.51 |
|
0.050 | 1.000 | 5 | 2009 | 2015 |