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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
38 | 0.630 | 0.560 | 3 | 148742201 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.200 | 1 | 42935767 | intron variant | A/C | snv | 0.66 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
14 | 0.776 | 0.360 | 12 | 121915890 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
15 | 0.752 | 0.360 | 6 | 131851228 | missense variant | A/C;G | snv | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.827 | 0.280 | 7 | 150992309 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 1.000 | 15 | 1996 | 2014 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.060 | 0.667 | 6 | 1999 | 2012 | |||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.020 | 1.000 | 2 | 2009 | 2014 | |||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
5 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.120 | 6 | 32702531 | downstream gene variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 6 | 32251066 | upstream gene variant | A/G | snv | 0.41 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.752 | 0.320 | X | 12906707 | start lost | A/G | snv | 0.31 | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.827 | 0.200 | 16 | 20353266 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.925 | 0.120 | 1 | 204156683 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 4 | 186076620 | start lost | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.851 | 0.200 | 6 | 32692101 | TF binding site variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 6 | 32702799 | downstream gene variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.080 | 21 | 31646056 | intergenic variant | A/G | snv | 0.13 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
4 | 0.925 | 0.120 | 12 | 47859573 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.882 | 0.160 | 5 | 60440946 | intron variant | A/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.120 | 22 | 36355056 | intron variant | C/A | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 |