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 | 0.882 | 0.040 | 7 | 101775373 | intergenic variant | G/A | snv | 0.17 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.040 | 9 | 22054691 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.040 | 8 | 76562310 | intron variant | T/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
7 | 0.807 | 0.040 | 19 | 4837475 | upstream gene variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 6 | 31356838 | missense variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 80477556 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 8 | 99992792 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 3 | 188374758 | intron variant | G/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 2 | 201300483 | intron variant | T/C | snv | 0.72 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 3 | 71572518 | non coding transcript exon variant | T/A | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 20 | 2302811 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.040 | 6 | 22056694 | splice region variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.080 | 5 | 33946466 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 1 | 17418040 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.040 | 1 | 228843990 | intergenic variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 7 | 47403036 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
8 | 0.790 | 0.120 | 10 | 103920874 | upstream gene variant | T/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 6 | 31857135 | downstream gene variant | A/T | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.040 | 6 | 32717158 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.851 | 0.040 | 10 | 62637778 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.040 | 2 | 201258272 | missense variant | A/G | snv | 0.66 | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 0.851 | 0.040 | 12 | 94733833 | regulatory region variant | T/A;C | snv | 0.23 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.040 | 4 | 43211547 | intron variant | T/G | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.040 | 8 | 80479448 | intron variant | G/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 7 | 50136567 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 |