| 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 | 0.080 | 3 | 186677324 | missense variant | A/G;T | snv | 0.20; 4.0E-06 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 3 | 186663473 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
3 | 3 | 186677647 | missense variant | C/A;T | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 186677783 | missense variant | A/G;T | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 186661800 | intron variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.080 | 3 | 186676249 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 3 | 186661567 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 186677611 | missense variant | G/A | snv | 3.8E-03 | 4.3E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 3 | 186668987 | missense variant | C/G;T | snv | 7.4E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 186660942 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 3 | 186673485 | non coding transcript exon variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 186676432 | intron variant | C/T | snv | 0.55 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 186675997 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 186675758 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 186672039 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 186663236 | intron variant | C/T | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 |