| 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 | 103482198 | non coding transcript exon variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 24869118 | intron variant | C/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 115386686 | intergenic variant | T/G | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 5511307 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 39336423 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 7 | 1761060 | regulatory region variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 14817300 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 55028648 | intergenic variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 106886868 | intron variant | C/T | snv | 0.72 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 159598058 | upstream gene variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 105004435 | intron variant | A/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 31317609 | missense variant | G/A | snv | 0.75 | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 19 | 1857298 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 23979642 | intron variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 41134347 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 83985362 | intergenic variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 79070050 | intron variant | T/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 14 | 47368546 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 14 | 28803690 | intron variant | C/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 167239713 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 5 | 58015731 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 23217458 | intergenic variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 177132734 | upstream gene variant | G/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 24513213 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 61026898 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 |