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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.160 | 6 | 31648589 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 10 | 94136183 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 3 | 2009 | 2013 | ||||
|
3 | 8 | 57876522 | intron variant | A/G | snv | 1.7E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 173462117 | intergenic variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 17 | 66231245 | intron variant | T/C | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 2 | 234394166 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 3 | 94524869 | regulatory region variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 1 | 106293321 | intergenic variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 7 | 102878584 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 16 | 51576036 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 8 | 2923434 | upstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 22 | 33990484 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 11 | 65586435 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 7 | 50729988 | intron variant | G/A | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 4 | 139543924 | intron variant | G/A | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
9 | 1.000 | 0.040 | 4 | 155724361 | intron variant | C/A | snv | 0.22 | 0.800 | 1.000 | 2 | 2011 | 2018 | ||||
|
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 | |||||||
|
6 | 7 | 27249498 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 20047028 | intron variant | C/T | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
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 | ||||||
|
5 | 4 | 155705436 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 26689211 | upstream gene variant | C/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 |