| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 10 | 102641875 | upstream gene variant | T/C | snv | 0.10 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 9 | 104910084 | intron variant | G/A | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 104916546 | intron variant | T/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
7 | 0.925 | 0.120 | 6 | 104931079 | intron variant | C/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 6 | 104949543 | intron variant | T/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 106156346 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 106163165 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 9 | 106876781 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 107487207 | intron variant | G/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 5 | 108103311 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 6 | 108606639 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 1.000 | 0.040 | 6 | 108675760 | intron variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1 | 109540264 | intron variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1 | 109612066 | intron variant | T/C | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 112509564 | intron variant | G/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 9 | 117616205 | intergenic variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 118307286 | intergenic variant | G/A | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 118310352 | regulatory region variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 1 | 118321979 | intergenic variant | T/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 118961220 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 1 | 118962811 | intron variant | G/A | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 119004219 | upstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1 | 119031964 | 3 prime UTR variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 |