| 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 | 14 | 35395672 | intergenic variant | G/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 20536128 | intergenic variant | C/A;T | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 198016459 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 2 | 8526108 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 17 | 45378874 | intergenic variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 159279069 | non coding transcript exon variant | C/T | snv | 8.3E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 9 | 16730976 | intron variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 62616798 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 3 | 187711669 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 91168389 | intron variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 111030094 | intergenic variant | C/T | snv | 1.9E-02 | 0.700 | 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 | ||||
|
1 | 1.000 | 0.040 | 1 | 160612458 | intron variant | C/G | snv | 0.45 | 0.36 | 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 | ||||
|
1 | 1.000 | 0.040 | 1 | 149981477 | intron variant | G/A | snv | 1.1E-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 | ||||
|
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 | ||||
|
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 |