| 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 | 9 | 6956850 | intron variant | A/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 18356588 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 14238391 | intron variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 15910046 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 142074189 | intron variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 62110317 | regulatory region variant | A/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 16728534 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.925 | 0.160 | 3 | 185811292 | intron variant | A/C | snv | 0.46 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1 | 83961369 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1 | 96479241 | intergenic variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 16 | 2737061 | downstream gene variant | A/C | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 59653470 | intron variant | A/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 28102834 | upstream gene variant | A/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 132770106 | intron variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 1.000 | 0.040 | 2 | 168235432 | intron variant | A/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 20 | 46276199 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 93607198 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.040 | 19 | 33829949 | intergenic variant | A/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 4 | 101261042 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 183819971 | intron variant | A/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 10 | 61294030 | intergenic variant | A/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 2 | 27772914 | intron variant | A/C | snv | 0.62 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 39405786 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 |