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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 | 0.800 | 1.000 | 3 | 2011 | 2017 | ||||
|
3 | 0.925 | 0.080 | 12 | 110895818 | intron variant | T/C | snv | 0.39 | 0.800 | 1.000 | 2 | 2011 | 2017 | ||||
|
12 | 0.882 | 12 | 111427245 | intron variant | C/G | snv | 0.67 | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
2 | 5 | 158392616 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 5 | 157057207 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 1 | 230160042 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 2 | 168974151 | intron variant | G/A | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 2 | 164155317 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
6 | 7 | 27249498 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 8 | 9293015 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 12 | 109527707 | intron variant | C/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 16235171 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
4 | 11 | 47340914 | intron variant | G/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 10 | 59620724 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 11 | 18632410 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 11 | 1980665 | intron variant | T/C | snv | 8.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 20446178 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 8 | 11775019 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 3 | 133720340 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 8 | 58423997 | intron variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 11 | 16302860 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.925 | 0.120 | 12 | 111730205 | intron variant | G/A | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 12 | 89632685 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 3 | 20334054 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 |