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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 16 | 50705671 | intron variant | C/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 13 | 40983974 | intron variant | A/G | snv | 4.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 162519834 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.280 | 6 | 32713151 | upstream gene variant | T/G | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 |