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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
3 | 0.925 | 0.080 | 5 | 129721066 | intron variant | G/T | snv | 0.94 | 0.710 | 1.000 | 2 | 2009 | 2013 | ||||
|
3 | 0.882 | 0.120 | X | 97043550 | intron variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.925 | 0.120 | 19 | 55322296 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 19 | 55288961 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 5 | 5289469 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 22 | 32844303 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 5 | 96434194 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 6 | 152007481 | intron variant | T/C | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 5 | 176887433 | intron variant | C/T | snv | 0.36 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 5 | 132862595 | intron variant | C/G | snv | 0.83 | 0.89 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
8 | 0.790 | 0.360 | 3 | 12159406 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 5 | 96435158 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | 3 | 30686798 | intron variant | G/C | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 7 | 33345650 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 0.925 | 0.120 | 7 | 150997170 | intron variant | AGGGGTGAGGAAGTCTAGACCTGCTGC/-;AGGGGTGAGGAAGTCTAGACCTGCTGCAGGGGTGAGGAAGTCTAGACCTGCTGC | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.807 | 0.320 | 5 | 31532531 | intron variant | G/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 7 | 33384348 | intron variant | T/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 4 | 155197173 | intron variant | A/G | snv | 0.66 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.080 | 8 | 100800928 | intergenic variant | A/G | snv | 0.13 | 0.810 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 0.925 | 0.080 | 8 | 100800465 | intergenic variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 4 | 155136200 | intergenic variant | G/A | snv | 0.70 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 2 | 49068268 | stop gained | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |