| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.851 | 0.280 | 7 | 84014246 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.200 | 9 | 97851858 | intron variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.807 | 0.280 | 8 | 38414263 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.120 | 9 | 97858130 | downstream gene variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.200 | 9 | 97786731 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.200 | 1 | 24334661 | missense variant | G/A | snv | 3.1E-04 | 1.7E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.200 | 17 | 51155707 | missense variant | G/A | snv | 6.4E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.240 | 20 | 40642176 | regulatory region variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.742 | 0.160 | 2 | 218890244 | missense variant | G/A | snv | 2.1E-03 | 6.9E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.200 | 16 | 68823432 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 160370811 | missense variant | G/A;C | snv | 8.6E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.200 | 16 | 68815743 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.790 | 0.200 | 4 | 4863419 | 3 prime UTR variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
2 | 0.925 | 0.120 | 20 | 40639876 | regulatory region variant | C/T | snv | 0.36 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.925 | 0.120 | 17 | 9028765 | intron variant | C/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
4 | 0.851 | 0.120 | 20 | 40632414 | intergenic variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2020 | 2020 |