Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.900 | 0.975 | 10 | 2004 | 2020 | ||||||||
|
0.526 | 0.560 | 3 | 179234297 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
0.820 | 1.000 | 2 | 2005 | 2016 | ||||||||
|
0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 |
|
0.800 | 1.000 | 14 | 2002 | 2015 | ||||||||
|
1.000 | 0.080 | 8 | 17589479 | missense variant | C/T | snv |
|
0.800 | 1.000 | 11 | 1995 | 2015 | |||||||||
|
0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781623 | missense variant | C/A | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
1.000 | 0.080 | 7 | 140781620 | missense variant | A/C | snv |
|
0.800 | 1.000 | 10 | 2006 | 2015 | |||||||||
|
0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv |
|
0.800 | 1.000 | 4 | 2002 | 2014 | |||||||||
|
0.562 | 0.440 | 3 | 179218303 | missense variant | G/A;C | snv | 4.0E-06 |
|
0.800 | 1.000 | 2 | 2005 | 2005 | ||||||||
|
1.000 | 0.080 | MT | 7275 | missense variant | T/C | snv |
|
0.800 | 1.000 | 2 | 2006 | 2009 | |||||||||
|
1.000 | 0.080 | MT | 6277 | missense variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2006 | 2009 | |||||||||
|
0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.080 | 4 | 1803725 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.800 | 0.923 | 0 | 1999 | 2020 | ||||||||
|
1.000 | 0.080 | 5 | 113043623 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.080 | 5 | 113064110 | missense variant | C/T | snv | 1.2E-05 |
|
0.800 | 0 | |||||||||||
|
1.000 | 0.080 | MT | 8009 | missense variant | G/A | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.080 | MT | 15572 | missense variant | T/C | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.080 | MT | 10563 | missense variant | T/C | snv |
|
0.800 | 0 | ||||||||||||
|
1.000 | 0.080 | 22 | 41178373 | missense variant | C/A;T | snv | 8.0E-06 |
|
0.800 | 0 | |||||||||||
|
1.000 | 0.080 | 18 | 53526629 | missense variant | C/A;G;T | snv | 4.0E-06; 8.0E-06 |
|
0.800 | 0 | |||||||||||
|
0.827 | 0.200 | 3 | 37007004 | missense variant | G/C | snv | 2.1E-04 | 1.9E-04 |
|
0.720 | 1.000 | 11 | 1996 | 2008 | |||||||
|
0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 |
|
0.710 | 1.000 | 12 | 1999 | 2012 | ||||||||
|
0.672 | 0.440 | 12 | 25227342 | missense variant | T/A;C;G | snv |
|
0.710 | 1.000 | 0 | 2017 | 2017 | |||||||||
|
0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv |
|
0.710 | 1.000 | 0 | 2014 | 2014 |