| 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 | 1.000 | 0.040 | 4 | 88954758 | intron variant | C/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 15 | 78535289 | 3 prime UTR variant | C/T | snv | 2.4E-05 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 4 | 121686023 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 3 | 111514392 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 6 | 4874525 | intron variant | C/G | snv | 5.3E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 2 | 46795404 | intron variant | A/C | snv | 6.8E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 6 | 33497705 | intergenic variant | C/T | snv | 0.50 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv | 0.710 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 15 | 49412544 | intron variant | G/A | snv | 0.26 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.776 | 0.160 | 14 | 94380925 | missense variant | T/A | snv | 2.3E-02 | 2.9E-02 | 0.710 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 5 | 31916265 | intron variant | T/A;C | snv | 0.710 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 4 | 68794020 | intergenic variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 5 | 148475407 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 5 | 156434616 | intron variant | G/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 132425039 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 4143749 | intron variant | A/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 83724155 | intron variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 156468621 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.040 | 1 | 218451191 | intergenic variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 2 | 214283391 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 1 | 196718199 | intron variant | A/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 5 | 148168700 | intron variant | G/A | snv | 0.10 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 29568688 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.851 | 0.080 | 15 | 78521704 | intron variant | G/A | snv | 0.67 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2011 | 2011 |