Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 2 | 25247708 | frameshift variant | TTTCC/- | del | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
35 | 0.641 | 0.520 | 1 | 114713907 | missense variant | TT/CA;CC | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.790 | 0.400 | 11 | 5227097 | 5 prime UTR variant | TT/- | delins | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.030 | 1.000 | 3 | 2012 | 2017 | |||||
|
31 | 0.658 | 0.480 | 1 | 114713908 | missense variant | TG/CT | mnv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.160 | 1 | 45331519 | frameshift variant | TCACGGACGGG/- | delins | 2.1E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 17 | 43094481 | frameshift variant | TC/- | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.813 | 16 | 1998 | 2016 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 1.000 | 20 | 2002 | 2018 | |||||
|
48 | 0.605 | 0.640 | 12 | 68808800 | intron variant | T/G | snv | 0.31 | 0.090 | 1.000 | 9 | 2011 | 2019 | ||||
|
34 | 0.637 | 0.400 | 8 | 23200707 | missense variant | T/G | snv | 0.15 | 0.14 | 0.040 | 1.000 | 4 | 2009 | 2014 | |||
|
65 | 0.566 | 0.840 | 5 | 159315942 | 3 prime UTR variant | T/G | snv | 0.26 | 0.040 | 1.000 | 4 | 2009 | 2017 | ||||
|
12 | 0.776 | 0.320 | 3 | 159988493 | intron variant | T/G | snv | 0.10 | 0.030 | 0.667 | 3 | 2009 | 2017 | ||||
|
17 | 0.716 | 0.360 | 11 | 102713373 | missense variant | T/G | snv | 6.0E-02 | 9.8E-02 | 0.030 | 1.000 | 3 | 2018 | 2019 | |||
|
37 | 0.662 | 0.360 | 17 | 7668434 | 3 prime UTR variant | T/G | snv | 8.3E-03 | 0.030 | 1.000 | 3 | 2013 | 2016 | ||||
|
27 | 0.653 | 0.600 | 15 | 81305928 | missense variant | T/G | snv | 9.6E-02 | 0.12 | 0.020 | 1.000 | 2 | 2014 | 2014 | |||
|
4 | 0.925 | 0.080 | 4 | 184631944 | splice region variant | T/G | snv | 0.64 | 0.73 | 0.020 | 1.000 | 2 | 2013 | 2018 | |||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.020 | 0.500 | 2 | 2010 | 2014 | |||
|
3 | 1.000 | 0.040 | 7 | 18935100 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 11 | 535098 | intron variant | T/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 0.925 | 0.120 | 8 | 41510767 | 3 prime UTR variant | T/G | snv | 0.93 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.882 | 0.040 | 16 | 24566445 | intron variant | T/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
20 | 0.716 | 0.320 | 6 | 108659993 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2013 | 2013 |