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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.900 | 0.975 | 0 | 2004 | 2020 | ||||
|
45 | 0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.820 | 1.000 | 0 | 2005 | 2016 | ||||
|
10 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.800 | 0.861 | 5 | 1997 | 2017 | |||
|
9 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.800 | 0.941 | 5 | 2002 | 2019 | |||
|
11 | 0.653 | 0.400 | 1 | 45332803 | missense variant | T/C | snv | 1.5E-03 | 1.6E-03 | 0.800 | 1.000 | 4 | 2002 | 2019 | |||
|
34 | 0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 0 | 2005 | 2005 | ||||
|
13 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 1803725 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
16 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 0 | 2002 | 2014 | |||||
|
14 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 0 | 2002 | 2015 | ||||
|
17 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 0 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.080 | 5 | 113043623 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 113064110 | missense variant | C/T | snv | 1.2E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv | 0.800 | 1.000 | 0 | 1995 | 2015 | |||||
|
1 | 1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv | 0.800 | 1.000 | 0 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv | 0.800 | 1.000 | 0 | 2006 | 2015 | |||||
|
1 | 1.000 | 0.080 | MT | 8009 | missense variant | G/A | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 15572 | missense variant | T/C | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 7275 | missense variant | T/C | snv | 0.800 | 1.000 | 0 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.080 | MT | 10563 | missense variant | T/C | snv | 0.800 | 0 | ||||||||
|
1 | 1.000 | 0.080 | MT | 6277 | missense variant | G/A | snv | 0.800 | 1.000 | 0 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.080 | 22 | 41178373 | missense variant | C/A;T | snv | 8.0E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.080 | 18 | 53526629 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 0 | |||||||
|
39 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.740 | 1.000 | 0 | 2017 | 2019 | ||||
|
1 | 0.807 | 0.120 | 11 | 48123823 | missense variant | A/C | snv | 0.17 | 0.15 | 0.730 | 0.667 | 0 | 2005 | 2019 |