| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 3 | 12347064 | intron variant | A/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 12303137 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 12311827 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.120 | 3 | 12295008 | intron variant | G/A | snv | 8.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 12302092 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 0.925 | 0.120 | 3 | 12311472 | intron variant | C/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 12309724 | intron variant | A/G | snv | 3.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 12343043 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 12322138 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 12320430 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 12308425 | intron variant | T/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 0.882 | 0.120 | 3 | 12299426 | intron variant | T/C | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 12347814 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 3 | 12348985 | intron variant | T/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 3 | 12304472 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 3 | 12294317 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 12302942 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 0.925 | 0.120 | 3 | 12298768 | intron variant | C/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2017 | 2017 |