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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.120 | 1 | 201365244 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
1 | 1.000 | 0.040 | 1 | 201359623 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 14 | 23431622 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
2 | 1.000 | 0.040 | 15 | 73343594 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 20 | 44116369 | missense variant | G/A;C | snv | 3.6E-05; 7.2E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.080 | 11 | 47350112 | missense variant | C/G | snv | 1.3E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 11 | 47341155 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
4 | 0.851 | 0.040 | 2 | 178802273 | missense variant | C/T | snv | 4.4E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 1.000 | 0.040 | X | 116170939 | intron variant | G/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 26067352 | missense variant | G/A | snv | 1.4E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 20 | 44116162 | missense variant | C/G;T | snv | 3.9E-05; 9.1E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 201359220 | missense variant | C/A;T | snv | 4.1E-06; 6.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.925 | 0.040 | 11 | 47343549 | missense variant | T/A | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.280 | 19 | 7142938 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.807 | 0.240 | 1 | 156138719 | missense variant | C/A;T | snv | 1.2E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 14 | 23400759 | missense variant | G/A | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 2 | 223959821 | missense variant | T/C;G | snv | 5.6E-05; 2.2E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 19 | 55154043 | frameshift variant | T/- | del | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.040 | 3 | 193645736 | missense variant | T/C | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 17 | 3690128 | missense variant | C/T | snv | 5.5E-04 | 4.9E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.040 | 14 | 23433188 | missense variant | G/A | snv | 2.8E-05 | 7.7E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
7 | 0.827 | 0.080 | 12 | 32878461 | missense variant | G/A | snv | 2.3E-03 | 2.5E-03 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 0.925 | 0.080 | 6 | 31271285 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.080 | 14 | 23433656 | missense variant | G/A | snv | 5.3E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 |