| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.200 | 22 | 38287631 | downstream gene variant | G/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.882 | 0.080 | 3 | 89399325 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.882 | 0.040 | 12 | 56443632 | intron variant | C/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.120 | 3 | 7457960 | intron variant | C/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.776 | 0.120 | 3 | 7442784 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 9 | 125542973 | intron variant | C/G | snv | 5.8E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 4 | 28686220 | intergenic variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 14 | 74771067 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 23318435 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 19 | 32405810 | 5 prime UTR variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 9 | 23346844 | intron variant | C/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 47164873 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 11 | 113503291 | intergenic variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 7 | 12223920 | intron variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 0.040 | 9 | 23341717 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.280 | 11 | 47255124 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 47814169 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 18 | 55389957 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 67909145 | intron variant | C/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 113374326 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 113441417 | intron variant | T/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 7 | 2011868 | intron variant | C/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 10 | 104694914 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.040 | 11 | 127110970 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 |