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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 6 | 135182647 | intron variant | C/T | snv | 0.32 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
4 | 18 | 48934533 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
13 | 1.000 | 0.040 | 8 | 125487789 | intron variant | C/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
5 | 6 | 41937537 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2009 | 2010 | |||||||
|
12 | 5 | 1104823 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 1 | 214007378 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 5 | 1284020 | intron variant | C/T | snv | 0.25 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
5 | 2 | 46127912 | intron variant | A/C | snv | 0.43 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
3 | 19 | 2161322 | intron variant | T/C | snv | 0.46 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 8 | 21934261 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 6 | 139523292 | intron variant | G/A | snv | 0.50 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
6 | 6 | 139519556 | intron variant | A/C | snv | 0.50 | 0.800 | 1.000 | 2 | 2009 | 2016 | ||||||
|
5 | 2 | 111410354 | intron variant | T/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 6 | 109292049 | intron variant | A/C;T | snv | 0.800 | 1.000 | 2 | 2009 | 2017 | |||||||
|
3 | 13 | 113849020 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 6 | 7232156 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 2 | 207134989 | intron variant | G/A | snv | 0.65 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
1 | 18 | 48680897 | intron variant | G/A | snv | 1.9E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1.000 | 0.040 | 22 | 45968281 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
7 | 6 | 135090090 | intron variant | T/C | snv | 0.19 | 0.800 | 1.000 | 2 | 2009 | 2018 | ||||||
|
3 | 6 | 109311596 | intron variant | A/G | snv | 0.40 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||||
|
3 | 2 | 60382339 | intron variant | C/T | snv | 0.33 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
2 | 6 | 25658944 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 3 | 49855463 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 14 | 72996771 | intron variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2019 | 2019 |