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 | 0.925 | 0.120 | 4 | 80263187 | upstream gene variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2009 | 2018 | |||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 2 | 173462117 | intergenic variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
12 | 0.851 | 0.200 | 12 | 111621753 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
6 | 4 | 80246155 | intergenic variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
9 | 5 | 32814922 | regulatory region variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 2 | 234394166 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
6 | 5 | 158418394 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 2 | 26689211 | upstream gene variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 3 | 94524869 | regulatory region variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
5 | 3 | 27496418 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 20 | 10988382 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 106293321 | intergenic variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
10 | 0.925 | 0.120 | 4 | 80243569 | intergenic variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 12 | 115118002 | intergenic variant | C/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 12 | 89584456 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 12 | 111762346 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 1.000 | 0.040 | 12 | 114914926 | regulatory region variant | G/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 10 | 18131043 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 2 | 164195781 | intron variant | A/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 7 | 27240226 | intron variant | -/AAAACA;AACA | delins | 0.91 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 20 | 10986566 | intron variant | T/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 1.000 | 0.040 | 15 | 74833304 | downstream gene variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1 | 11905735 | upstream gene variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 22 | 33990484 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 |