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 | 1 | 72282884 | upstream gene variant | -/TCC;TCCT | ins | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 0.925 | 0.040 | 12 | 48995537 | 3 prime UTR variant | A/C | snv | 0.46 | 0.700 | 1.000 | 4 | 2017 | 2019 | ||||
|
7 | 0.851 | 0.080 | 14 | 32823537 | synonymous variant | A/C | snv | 0.60 | 0.65 | 0.700 | 1.000 | 4 | 2018 | 2019 | |||
|
1 | 16 | 71545764 | intron variant | A/C | snv | 0.71 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
2 | 3 | 49568755 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 16 | 28287097 | intron variant | A/C | snv | 0.16 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 17 | 58349781 | intron variant | A/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 6 | 26157851 | upstream gene variant | A/C | snv | 0.11 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 4 | 130143535 | intergenic variant | A/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 179850608 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 112689091 | intron variant | A/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 24181603 | intron variant | A/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 8 | 92392214 | intergenic variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 9 | 70383416 | downstream gene variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 123935062 | intron variant | A/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 8 | 110466092 | intergenic variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 8 | 31008217 | intron variant | A/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 102217471 | intergenic variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 163599232 | intron variant | A/C | snv | 7.7E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 59896409 | intergenic variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 16320756 | intron variant | A/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 49634221 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 41383668 | downstream gene variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 17 | 46687409 | intron variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 71335356 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 |