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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 245133143 | downstream gene variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
43 | 0.658 | 0.640 | 1 | 152313385 | stop gained | G/A;T | snv | 9.4E-03; 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.080 | 2 | 135045855 | intron variant | G/T | snv | 0.83 | 0.740 | 1.000 | 4 | 2012 | 2017 | ||||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 1.000 | 2 | 2008 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 227028004 | missense variant | C/G;T | snv | 0.47 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.925 | 0.160 | 2 | 227256385 | missense variant | G/A;T | snv | 4.0E-06; 0.17 | 0.020 | 1.000 | 2 | 2017 | 2020 | ||||
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 227008279 | synonymous variant | T/C | snv | 0.56 | 0.58 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 2 | 227007466 | synonymous variant | G/A | snv | 0.47 | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 2 | 135749357 | intron variant | A/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 3 | 172277815 | intron variant | C/A;T | snv | 0.030 | 1.000 | 3 | 2013 | 2015 | |||||
|
43 | 0.623 | 0.600 | 3 | 49357401 | missense variant | G/A | snv | 0.28 | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 3 | 114316541 | mature miRNA variant | A/G | snv | 4.0E-06 | 4.9E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
33 | 0.641 | 0.400 | 5 | 122077513 | missense variant | C/A;T | snv | 4.0E-06; 0.17 | 0.030 | 0.667 | 3 | 2012 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 122077195 | non coding transcript exon variant | C/A;G | snv | 0.030 | 0.667 | 3 | 2012 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 122073485 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 5 | 96703321 | intron variant | T/C | snv | 0.45 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 122071524 | intron variant | C/T | snv | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 139394555 | missense variant | C/T | snv | 2.1E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 5 | 139394411 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 149374385 | missense variant | C/T | snv | 4.3E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 5 | 136056715 | missense variant | G/A;T | snv | 1.6E-05; 1.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 |