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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.740 | 1.000 | 14 | 2004 | 2016 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 13 | 2004 | 2016 | ||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 3 | 2014 | 2017 | |||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
22 | 0.701 | 0.480 | 17 | 7673788 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2014 | 2016 | |||||
|
21 | 0.695 | 0.480 | 17 | 7675161 | missense variant | G/A;C;T | snv | 0.710 | 1.000 | 2 | 2014 | 2016 | |||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2016 | 2016 | |||||
|
20 | 0.701 | 0.360 | 17 | 7675095 | missense variant | C/A;T | snv | 0.710 | 1.000 | 2 | 2016 | 2017 | |||||
|
44 | 0.630 | 0.320 | 17 | 7670699 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.200 | 17 | 43045793 | splice acceptor variant | CCAATTGC/-;CCAATTGCCCAATTGC | delins | 0.700 | 1.000 | 13 | 1976 | 2016 | |||||
|
44 | 0.605 | 0.440 | 3 | 179218294 | missense variant | G/A;C | snv | 0.700 | 1.000 | 12 | 2004 | 2016 | |||||
|
33 | 0.645 | 0.320 | 3 | 179218304 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 10 | 2004 | 2016 | |||||
|
23 | 0.677 | 0.280 | 3 | 179218306 | missense variant | C/A;G | snv | 0.700 | 1.000 | 9 | 2004 | 2016 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 9 | 2004 | 2016 | |||||
|
2 | 3 | 179218315 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 2004 | 2012 | |||||||
|
16 | 0.763 | 0.280 | 22 | 28695219 | missense variant | G/A | snv | 4.9E-04 | 2.6E-04 | 0.700 | 1.000 | 7 | 2005 | 2016 | |||
|
13 | 0.776 | 0.200 | 17 | 39723967 | missense variant | T/C;G | snv | 0.700 | 1.000 | 5 | 2008 | 2016 | |||||
|
3 | 1.000 | 0.080 | 10 | 87933236 | missense variant | G/A;T | snv | 0.700 | 1.000 | 4 | 1999 | 2010 | |||||
|
25 | 0.689 | 0.400 | 10 | 87957915 | stop gained | C/A;T | snv | 0.700 | 1.000 | 4 | 1999 | 2010 | |||||
|
4 | 1.000 | 0.080 | 10 | 87958013 | frameshift variant | A/- | delins | 0.700 | 1.000 | 4 | 1999 | 2010 | |||||
|
7 | 0.827 | 0.160 | 17 | 39724008 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2006 | 2016 | |||||
|
8 | 0.807 | 0.120 | 17 | 39724747 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 4 | 2011 | 2016 | |||||
|
10 | 0.790 | 0.160 | 17 | 39725079 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 2006 | 2016 | ||||
|
2 | 6 | 152011697 | missense variant | G/C | snv | 0.700 | 1.000 | 3 | 2013 | 2014 | |||||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 1998 | 2016 |