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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.080 | 4 | 145819473 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.790 | 0.080 | 4 | 145811502 | intron variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.776 | 0.080 | 10 | 79059375 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 6 | 2014 | 2019 | ||||
|
10 | 0.776 | 0.080 | 10 | 79286508 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 3 | 114402172 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.790 | 0.080 | 16 | 78592686 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
16 | 0.716 | 0.160 | 10 | 112520943 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 3 | 2014 | 2019 | ||||
|
16 | 0.716 | 0.160 | 10 | 112559621 | intron variant | C/T | snv | 3.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.080 | 10 | 112528860 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 10 | 112535133 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
62 | 0.574 | 0.720 | 6 | 43770966 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
10 | 0.776 | 0.080 | 8 | 116778675 | intron variant | C/A | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 8 | 116836068 | intron variant | G/A | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
17 | 0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 2 | 178609836 | missense variant | C/A;G | snv | 1.2E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 178785717 | missense variant | G/A;T | snv | 4.4E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.790 | 0.080 | 1 | 54782179 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 1 | 54780362 | 3 prime UTR variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 98981947 | missense variant | C/T | snv | 4.4E-06 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 98949733 | missense variant | G/A | snv | 1.2E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 7 | 98964724 | missense variant | C/T | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.776 | 0.080 | 11 | 101785666 | intron variant | T/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.790 | 0.080 | 20 | 44031646 | intron variant | C/A | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.776 | 0.080 | 20 | 44037835 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.790 | 0.080 | 7 | 47471563 | intron variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 |