| 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 | 7 | 100028173 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 100039545 | downstream gene variant | G/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 10 | 100045685 | intron variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 15 | 100052239 | intron variant | -/AA | ins | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 100132203 | intron variant | A/G | snv | 9.0E-03 | 5.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 2 | 100146324 | intron variant | T/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 15 | 100152748 | missense variant | G/A;T | snv | 7.1E-02; 3.2E-05 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 4 | 10016456 | intron variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 100183232 | intron variant | G/T | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 15 | 100218180 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 15 | 100219409 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 15 | 100246066 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1 | 15 | 100254158 | synonymous variant | C/T | snv | 0.75 | 0.76 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 15 | 100255167 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 15 | 100261237 | intron variant | A/G | snv | 0.72 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 15 | 100314288 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 100353172 | intron variant | T/G | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 14 | 100454079 | intron variant | T/C | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 100571205 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 10 | 100575750 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 2 | 10059474 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 100729932 | intron variant | C/T | snv | 4.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 100732685 | intron variant | G/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 8 | 100793314 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 7 | 100794560 | intron variant | T/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |