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 | 0.827 | 0.280 | 1 | 209706914 | intron variant | T/G | snv | 0.21 | 0.20 | 0.040 | 1.000 | 4 | 2011 | 2017 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.040 | 1.000 | 4 | 2008 | 2016 | |||||
|
8 | 0.807 | 0.240 | 7 | 150339575 | intron variant | T/G | snv | 0.11 | 0.020 | 1.000 | 2 | 2012 | 2016 | ||||
|
1 | 1.000 | 0.040 | 10 | 60877982 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.925 | 0.040 | 2 | 233702448 | intron variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 17 | 78358299 | 3 prime UTR variant | T/G | snv | 2.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
38 | 0.645 | 0.480 | 4 | 71742666 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.120 | 6 | 88163211 | intron variant | T/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 5 | 149404204 | upstream gene variant | T/G | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.080 | 0.875 | 8 | 2011 | 2019 | ||||
|
81 | 0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 | 0.040 | 1.000 | 4 | 2008 | 2015 | |||
|
1 | 1.000 | 0.040 | 7 | 95596501 | 5 prime UTR variant | T/C;G | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 7 | 44191617 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 1.000 | 0.040 | 8 | 20020845 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 4 | 9834927 | missense variant | T/C;G | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 19 | 11107511 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
62 | 0.658 | 0.400 | 2 | 27518370 | intron variant | T/C | snv | 0.67 | 0.830 | 1.000 | 6 | 2010 | 2018 | ||||
|
34 | 0.683 | 0.480 | 18 | 60183864 | intergenic variant | T/C | snv | 0.24 | 0.050 | 0.800 | 5 | 2013 | 2019 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 0.333 | 3 | 2001 | 2011 |