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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.200 | 14 | 20892057 | missense variant | C/G | snv | 0.73 | 0.65 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
1 | 1.000 | 0.080 | 12 | 68250838 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.080 | 21 | 33354946 | intron variant | T/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 22 | 17093025 | intron variant | G/T | snv | 0.11 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 21 | 33326080 | intron variant | C/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 15 | 39590289 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 21077768 | missense variant | G/C;T | snv | 7.0E-04; 4.2E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 31575843 | missense variant | C/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
9 | 0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
11 | 0.752 | 0.360 | 5 | 159333192 | intron variant | TTAGAG/GC | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.851 | 0.160 | 12 | 68255258 | upstream gene variant | C/T | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 12 | 68255036 | upstream gene variant | A/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 14 | 20892185 | 3 prime UTR variant | G/C | snv | 0.18 | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
7 | 0.807 | 0.200 | 21 | 33343393 | missense variant | G/C | snv | 0.18 | 0.16 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 15 | 39587316 | intron variant | C/A;G;T | snv | 4.2E-06; 0.29 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 15 | 39595647 | 3 prime UTR variant | G/A | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 5 | 157059492 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.807 | 0.280 | 5 | 157059397 | upstream gene variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 22 | 17098164 | intron variant | T/C | snv | 1.1E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 22 | 17083588 | upstream gene variant | T/C | snv | 9.1E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.160 | 4 | 76024944 | intron variant | A/G | snv | 0.29 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 6 | 52248562 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
9 | 0.925 | 0.120 | 9 | 133458632 | intron variant | A/G | snv | 0.79 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.160 | 1 | 169727805 | missense variant | G/A | snv | 0.14 | 0.11 | 0.010 | 1.000 | 1 | 2015 | 2015 |