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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 0.742 | 0.280 | 19 | 39248514 | frameshift variant | TT/G;T | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 0.600 | 5 | 2013 | 2016 | |||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.810 | 1.000 | 3 | 2013 | 2018 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.020 | 0.500 | 2 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 19 | 1370527 | intron variant | T/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 11 | 65582285 | missense variant | T/G | snv | 0.47 | 0.45 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 0.925 | 0.120 | 4 | 39417789 | intron variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.760 | 1.000 | 7 | 2014 | 2019 | |||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.030 | 0.667 | 3 | 2008 | 2016 | ||||
|
1 | 1.000 | 0.040 | 22 | 43942254 | intron variant | T/C;G | snv | 0.40 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
6 | 0.827 | 0.200 | 6 | 32658092 | upstream gene variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.790 | 1.000 | 10 | 2011 | 2019 | ||||
|
14 | 0.763 | 0.360 | 2 | 88124547 | missense variant | T/C | snv | 0.30 | 0.29 | 0.030 | 1.000 | 3 | 2016 | 2018 | |||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 139784177 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 212072166 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 118089309 | intron variant | T/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
40 | 0.620 | 0.440 | 5 | 147828115 | missense variant | T/C | snv | 9.1E-03 | 8.2E-03 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 99574660 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 8 | 125495066 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 55700194 | missense variant | T/C | snv | 3.2E-03 | 9.6E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 148708685 | intron variant | T/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 3 | 148700381 | intron variant | T/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.790 | 0.200 | 4 | 99583507 | missense variant | T/C | snv | 0.25 | 0.26 | 0.010 | 1.000 | 1 | 2011 | 2011 |