| 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 | 19 | 18542034 | 5 prime UTR variant | A/G | snv | 0.46 | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 16 | 56795510 | intron variant | T/C | snv | 4.7E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1 | 112500200 | intron variant | T/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 121355564 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 3 | 12357908 | intron variant | C/T | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 26694101 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 15 | 50858717 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 17 | 8169779 | downstream gene variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 4 | 3755653 | downstream gene variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 2 | 54796463 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 68218222 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.882 | 0.160 | 15 | 74735539 | intergenic variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 5 | 104619660 | intron variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 2 | 121281207 | missense variant | G/A | snv | 6.8E-03 | 2.9E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.882 | 0.160 | 7 | 17244953 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 3 | 27372075 | intron variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 11 | 1875727 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | X | 78218174 | intergenic variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 54681503 | intergenic variant | T/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 132840387 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | X | 76165707 | intergenic variant | C/T | snv | 2.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 17 | 61406955 | non coding transcript exon variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 547781 | intergenic variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 66806036 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 |