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 | 10 | 99761184 | TF binding site variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 99397681 | stop gained | G/A;C | snv | 4.0E-06; 5.2E-03 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||||
|
1 | 10 | 99372525 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 98480617 | intron variant | C/T | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 0.040 | 10 | 98367794 | regulatory region variant | G/A | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 9 | 9797383 | intron variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.240 | 7 | 95326216 | upstream gene variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 7 | 95305887 | intron variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 11 | 94180526 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 1 | 94074274 | intron variant | C/T | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 4 | 87254878 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 7 | 80545045 | intron variant | T/C | snv | 2.8E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 4 | 78698045 | intergenic variant | C/A | snv | 5.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1 | 76433779 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 5 | 73099362 | intergenic variant | G/A | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 8 | 68651460 | intron variant | G/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 65395057 | intron variant | T/C | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 65249673 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.080 | 6 | 61987841 | intron variant | A/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 18 | 61567782 | downstream gene variant | G/A | snv | 9.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 58730951 | intron variant | C/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 50218883 | intron variant | A/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 19 | 49509317 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 1 | 48651222 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 |