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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.724 | 0.400 | 9 | 22134095 | intergenic variant | T/C | snv | 0.14 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
12 | 0.882 | 0.160 | 2 | 27525757 | downstream gene variant | A/G | snv | 0.58 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
2 | 1.000 | 0.040 | 8 | 11589291 | regulatory region variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
7 | 0.851 | 0.080 | 16 | 56959249 | upstream gene variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 11 | 116802796 | intergenic variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
26 | 0.732 | 0.280 | 16 | 56959412 | upstream gene variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 0.040 | 11 | 116796621 | upstream gene variant | C/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.732 | 0.400 | 3 | 122170241 | downstream gene variant | A/G | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.240 | 9 | 104800523 | missense variant | T/C | snv | 0.71 | 0.60 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 1.000 | 0.040 | 9 | 104839260 | intron variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 104782875 | 3 prime UTR variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 104830901 | intron variant | A/C;T | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.925 | 0.160 | X | 15592225 | splice region variant | C/T | snv | 6.2E-06; 0.28 | 0.23 | 0.020 | 1.000 | 2 | 2012 | 2018 | |||
|
4 | 0.925 | 0.120 | X | 15583220 | intron variant | A/G | snv | 9.1E-02 | 0.020 | 0.500 | 2 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.160 | X | 15572684 | intron variant | C/G | snv | 0.020 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | X | 15599940 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
9 | 0.827 | 0.160 | X | 15564667 | intron variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.120 | X | 15599938 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | X | 15564843 | intron variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 0.925 | 0.080 | X | 15568841 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | X | 15584941 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.080 | X | 15579386 | intron variant | C/T | snv | 3.9E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | X | 15578920 | intron variant | A/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 0.925 | 0.080 | X | 15558483 | downstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 |