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 | 15 | 46430237 | intron variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 99255866 | intergenic variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 1106544 | intergenic variant | A/G | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 93842954 | intergenic variant | G/A | snv | 0.89 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 46564219 | intron variant | T/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 5 | 33352632 | intergenic variant | C/T | snv | 0.86 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 170313903 | intergenic variant | A/G | snv | 0.84 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 62975862 | intron variant | T/C | snv | 0.83 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 18 | 23127658 | intergenic variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 18 | 23128357 | intergenic variant | G/A | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 177606679 | intron variant | T/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 18 | 23148194 | intron variant | A/T | snv | 0.82 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 0.925 | 0.040 | 1 | 91611540 | TF binding site variant | G/A | snv | 0.81 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 17 | 70980274 | intergenic variant | C/T | snv | 0.81 | 0.700 | 1.000 | 2 | 2014 | 2019 | ||||||
|
1 | 17 | 64690612 | intergenic variant | G/A | snv | 0.81 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 110641566 | regulatory region variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 95966223 | intron variant | C/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 15326417 | intron variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 2 | 88595833 | non coding transcript exon variant | T/C | snv | 0.70 | 0.77 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 1.000 | 0.040 | 2 | 215422370 | intron variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 4 | 55145982 | intergenic variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 5 | 43976060 | intergenic variant | A/G | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 12 | 115062886 | intergenic variant | T/A | snv | 0.76 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 22 | 27225190 | upstream gene variant | G/A | snv | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 4 | 88934344 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 |