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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 7 | 100028412 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 10004305 | intron variant | C/A;T | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
13 | 1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 11 | 100648287 | intergenic variant | G/A;T | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 100664447 | upstream gene variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 11 | 100708153 | intron variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 11 | 100713419 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
10 | 0.925 | 0.080 | 11 | 100722807 | intron variant | G/A;C | snv | 0.700 | 1.000 | 6 | 2011 | 2018 | |||||
|
4 | 11 | 100730902 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
9 | 1.000 | 0.040 | 11 | 100739815 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||
|
2 | 11 | 100772406 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 10 | 100796696 | intron variant | G/A | snv | 0.91 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 100899019 | upstream gene variant | -/TA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 8 | 10122482 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 101230037 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 10 | 101355588 | intron variant | A/G | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 101509521 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 4 | 101514108 | intron variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 101549236 | regulatory region variant | T/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 102243067 | intergenic variant | C/T | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 7 | 2011 | 2019 | ||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 8 | 10241994 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 10 | 102794772 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
13 | 0.790 | 0.280 | 10 | 102834750 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 |