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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.750 | 1.000 | 12 | 2002 | 2015 | ||||
|
13 | 0.732 | 0.440 | 17 | 61716051 | stop gained | G/A | snv | 1.7E-04 | 1.5E-04 | 0.700 | 1.000 | 12 | 2005 | 2016 | |||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 9 | 2005 | 2011 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.070 | 0.857 | 7 | 2010 | 2014 | |||
|
12 | 0.742 | 0.360 | 9 | 34649445 | missense variant | A/G | snv | 9.2E-02 | 7.4E-02 | 0.050 | 0.800 | 5 | 1998 | 2003 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.050 | 1.000 | 5 | 2011 | 2018 | ||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.050 | 0.800 | 5 | 2013 | 2016 | ||||
|
5 | 0.827 | 0.200 | 9 | 16915023 | upstream gene variant | T/C | snv | 0.41 | 0.820 | 1.000 | 5 | 2009 | 2013 | ||||
|
4 | 0.882 | 0.280 | 17 | 61780325 | stop gained | G/A;T | snv | 1.6E-05; 2.0E-05 | 0.700 | 1.000 | 5 | 2014 | 2016 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 1.000 | 4 | 2012 | 2015 | ||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.700 | 1.000 | 4 | 2002 | 2012 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.040 | 0.750 | 4 | 2013 | 2017 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.040 | 1.000 | 4 | 2003 | 2015 | |||
|
4 | 0.851 | 0.120 | 2 | 176177905 | non coding transcript exon variant | A/C;T | snv | 0.720 | 1.000 | 4 | 2010 | 2017 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 0.250 | 4 | 2010 | 2015 | |||||
|
16 | 0.732 | 0.240 | 3 | 179218307 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 4 | 2006 | 2010 | |||||
|
4 | 0.882 | 0.280 | 17 | 61799125 | stop gained | G/A;T | snv | 1.2E-05 | 0.700 | 1.000 | 4 | 2016 | 2017 | ||||
|
4 | 0.851 | 0.120 | 8 | 128531703 | intron variant | G/A | snv | 0.13 | 0.710 | 1.000 | 3 | 2010 | 2013 | ||||
|
12 | 0.742 | 0.240 | 11 | 101062681 | missense variant | C/A;G | snv | 0.13; 4.0E-06 | 0.030 | 1.000 | 3 | 2001 | 2015 | ||||
|
71 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.710 | 1.000 | 3 | 2005 | 2016 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.030 | 1.000 | 3 | 2010 | 2012 | |||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.720 | 1.000 | 3 | 2016 | 2018 | |||
|
41 | 0.627 | 0.560 | 10 | 87933147 | stop gained | C/G;T | snv | 1.2E-05 | 0.700 | 1.000 | 3 | 2001 | 2010 | ||||
|
23 | 0.683 | 0.400 | 10 | 87933148 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 3 | 2001 | 2010 | |||||
|
101 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 3 | 2005 | 2016 |