| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 3 | 52472410 | intron variant | C/T | snv | 0.96 | 0.96 | 0.800 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 6 | 127016554 | intron variant | C/A;G;T | snv | 0.94 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 8 | 22107291 | 3 prime UTR variant | C/T | snv | 0.90 | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 3 | 11365247 | intron variant | C/T | snv | 0.88 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 165352331 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 11 | 64101590 | intron variant | C/T | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 13 | 54181939 | intergenic variant | T/C | snv | 0.87 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 171520702 | upstream gene variant | C/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 3 | 52502292 | intron variant | A/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 13 | 50647482 | intron variant | C/A | snv | 0.85 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 9 | 100346659 | intron variant | C/G | snv | 0.84 | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 1 | 72372846 | intron variant | A/G | snv | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 2 | 99663560 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 1 | 72369727 | intron variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 75234761 | synonymous variant | C/T | snv | 0.86 | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 629510 | intergenic variant | C/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 630323 | intergenic variant | C/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 11472204 | intron variant | T/G | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 99672016 | intron variant | A/G | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 48997446 | non coding transcript exon variant | T/C | snv | 0.84 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 97957593 | intron variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 35938728 | intergenic variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 12260963 | upstream gene variant | C/T | snv | 0.83 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 17071094 | intron variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 49462817 | intron variant | C/T | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 |