| 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 | 1.000 | 0.040 | 5 | 111030094 | intergenic variant | C/T | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 17 | 81290360 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 11 | 111563369 | downstream gene variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.882 | 0.120 | 17 | 40608272 | TF binding site variant | T/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 209159 | upstream gene variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 8563590 | intergenic variant | G/C;T | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 160612458 | intron variant | C/G | snv | 0.45 | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 1206007 | intron variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 45535906 | downstream gene variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 152027641 | intron variant | G/A | snv | 2.5E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 149981477 | intron variant | G/A | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 128721272 | missense variant | T/A;C | snv | 7.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 14 | 92558117 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 9 | 137605991 | intron variant | G/A | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 4766748 | intron variant | T/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 8 | 128682763 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 33235671 | TF binding site variant | G/A | snv | 5.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 23526489 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 12084377 | intron variant | G/A | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 212691650 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 1 | 167457187 | non coding transcript exon variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 196641630 | intron variant | A/G | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 17 | 49329709 | intron variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 5 | 132704377 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |