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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.280 | 2 | 102341256 | synonymous variant | C/T | snv | 0.33 | 0.35 | 0.710 | 0.500 | 2 | 2010 | 2019 | |||
|
1 | 1.000 | 0.120 | 2 | 102370999 | intron variant | T/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.120 | 19 | 1104079 | synonymous variant | G/A;C | snv | 0.22; 1.8E-05 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.120 | 16 | 11226805 | downstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.200 | 7 | 112465699 | intron variant | G/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 7 | 112475603 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.320 | 7 | 117627537 | stop gained | C/T | snv | 5.6E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 1993 | 1993 | |||
|
3 | 1.000 | 0.120 | 2 | 127292055 | 3 prime UTR variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.776 | 0.480 | 5 | 132340627 | missense variant | C/T | snv | 0.29 | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.120 | 1 | 159302021 | intron variant | T/C | snv | 0.65 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 11 | 192836 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 11 | 192997 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
5 | 0.827 | 0.160 | 6 | 31354420 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.020 | 1.000 | 2 | 2009 | 2018 | |||
|
5 | 0.827 | 0.360 | 6 | 32440267 | intron variant | A/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.360 | 6 | 32440958 | intron variant | A/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.160 | 6 | 32619436 | regulatory region variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 6 | 32636021 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.752 | 0.320 | 17 | 34285875 | missense variant | G/A;C;T | snv | 0.16; 1.2E-05 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | 19 | 41195623 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.807 | 0.280 | 17 | 4632019 | missense variant | G/A | snv | 2.7E-02 | 1.7E-02 | 0.710 | 1.000 | 1 | 2019 | 2019 |