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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.200 | 16 | 2115395 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 10 | 8073738 | splice acceptor variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.120 | 17 | 56848773 | stop gained | G/A | snv | 9.1E-05 | 1.5E-04 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.200 | 3 | 121772659 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.200 | 3 | 121772605 | frameshift variant | TG/- | delins | 8.0E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.280 | 2 | 73448259 | frameshift variant | A/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 1.000 | 14 | 2000 | 2014 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.800 | 10 | 1999 | 2014 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.090 | 0.778 | 9 | 1997 | 2015 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.060 | 0.833 | 6 | 1997 | 2009 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.050 | 1.000 | 5 | 2005 | 2016 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.050 | 1.000 | 5 | 2005 | 2016 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.030 | 1.000 | 3 | 2008 | 2012 | |||||
|
2 | 0.925 | 0.080 | 15 | 93598604 | intron variant | T/G | snv | 0.10 | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2005 | 2010 | |||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.030 | 1.000 | 3 | 2009 | 2019 | |||
|
23 | 0.672 | 0.360 | 3 | 122284922 | missense variant | A/G | snv | 0.15 | 9.0E-02 | 0.020 | 1.000 | 2 | 2002 | 2009 | |||
|
11 | 0.827 | 0.200 | 16 | 20356368 | upstream gene variant | G/T | snv | 0.14 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
15 | 0.742 | 0.520 | 7 | 100719675 | upstream gene variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2008 | 2010 | |||||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 1.000 | 2 | 2005 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2012 | 2015 | |||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.020 | 1.000 | 2 | 2003 | 2011 | |||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.020 | 1.000 | 2 | 2003 | 2011 | |||
|
10 | 0.776 | 0.320 | 22 | 17084145 | upstream gene variant | G/A | snv | 0.84 | 0.020 | 1.000 | 2 | 2012 | 2015 | ||||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.020 | 0.500 | 2 | 2003 | 2003 |