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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.080 | 5 | 1411740 | intron variant | -/ACATACACACTCAGACACACATACCATGCA | ins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.827 | 0.120 | 5 | 1393745 | 3 prime UTR variant | -/AGTGGGGGCCCTGCATGCGTCCTGGGGTAGTACACGCTCC | delins | 8.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.160 | 6 | 34242693 | intron variant | -/C | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
28 | 0.752 | 0.320 | 4 | 79984831 | frameshift variant | -/G;GG | delins | 1.7E-05 | 0.700 | 0 | |||||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
4 | 1.000 | 0.040 | 13 | 33015697 | upstream gene variant | A/- | del | 0.21 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.060 | 0.833 | 6 | 2013 | 2019 | |||
|
5 | 0.851 | 0.160 | X | 129655744 | upstream gene variant | A/C | snv | 0.11 | 0.040 | 1.000 | 4 | 2009 | 2016 | ||||
|
2 | 1.000 | 0.080 | 4 | 121696891 | 5 prime UTR variant | A/C | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 2 | 43636315 | upstream gene variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.240 | 4 | 94593458 | intron variant | A/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.160 | 5 | 53048731 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
7 | 1 | 112648185 | intron variant | A/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.851 | 0.200 | 17 | 42552898 | 5 prime UTR variant | A/C | snv | 7.8E-03 | 8.2E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1 | 168904861 | intron variant | A/C | snv | 0.13 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
8 | 0.790 | 0.360 | 6 | 160249250 | missense variant | A/C | snv | 0.90 | 0.89 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.200 | 14 | 64294403 | 5 prime UTR variant | A/C | snv | 7.0E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
10 | 0.790 | 0.120 | 19 | 49154952 | missense variant | A/C | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 18 | 6282594 | intron variant | A/C | snv | 0.27 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 10 | 103918139 | 5 prime UTR variant | A/C | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 3 | 9303534 | intron variant | A/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 0.925 | 0.160 | 4 | 38813881 | intron variant | A/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 14 | 96222623 | intron variant | A/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 |