| 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 | 1.000 | 0.040 | 1 | 218451191 | intergenic variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.080 | 1 | 184054395 | missense variant | A/C;G;T | snv | 0.34; 4.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1 | 218432267 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
4 | 1 | 170403362 | intergenic variant | A/C | snv | 0.71 | 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 | ||||||
|
9 | 0.882 | 0.120 | 1 | 149934520 | missense variant | T/C | snv | 0.33 | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 1 | 72371807 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 78212446 | intergenic variant | A/G | snv | 0.32 | 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 | ||||||
|
1 | 1 | 219479453 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 119088551 | intron variant | T/C | snv | 0.40 | 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 | ||||||
|
2 | 1 | 46039475 | downstream gene variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.080 | 1 | 77582646 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1 | 172361919 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 184049341 | upstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 190701754 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 172364108 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
5 | 1 | 184051811 | missense variant | G/A | snv | 0.33 | 0.28 | 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 | ||||||
|
5 | 0.882 | 0.040 | 1 | 201903136 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 72278461 | intron variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 17005181 | intron variant | A/G | snv | 0.52 | 0.700 | 1.000 | 1 | 2017 | 2017 |