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 | 1.000 | 0.040 | 9 | 113262744 | 3 prime UTR variant | A/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.752 | 0.440 | 17 | 78364457 | intron variant | A/C;G | snv | 0.54 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 1.000 | 3 | 2018 | 2019 | |||
|
6 | 0.827 | 0.120 | X | 48792377 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 10 | 118867050 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 0.080 | 17 | 4933367 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 7 | 99760901 | missense variant | A/G | snv | 5.2E-03 | 5.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 11 | 36503205 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 36493896 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.882 | 0.080 | 3 | 129061921 | missense variant | A/G | snv | 4.8E-04 | 7.4E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
5 | 0.851 | 0.240 | 19 | 7748382 | upstream gene variant | A/G | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.120 | 6 | 44233216 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 4 | 38798702 | missense variant | A/G | snv | 8.2E-03 | 2.8E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 9 | 36246181 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 0.776 | 0.280 | 19 | 7747650 | upstream gene variant | A/G;T | snv | 0.66 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
16 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
29 | 0.658 | 0.400 | 1 | 206776020 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 1.000 | 17 | 35557404 | missense variant | A/T | snv | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.160 | 13 | 108209756 | frameshift variant | AG/-;AGAG | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins | 0.700 | 0 | |||||||||
|
3 | 0.925 | 0.040 | 3 | 119782192 | 5 prime UTR variant | C/A | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 12 | 112663189 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 80057282 | intron variant | C/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 0.882 | 0.120 | X | 154365245 | missense variant | C/A;G;T | snv | 3.1E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 |