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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
32 | 0.662 | 0.640 | 3 | 10289773 | missense variant | G/T | snv | 8.8E-02 | 7.1E-02 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||
|
3 | 0.925 | 0.080 | 7 | 106283804 | intron variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.120 | 7 | 106285307 | intron variant | C/A;T | snv | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 19 | 1101993 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 1103466 | upstream gene variant | A/G | snv | 0.49 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 6 | 110873500 | upstream gene variant | C/A;G | snv | 0.80 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.030 | 1.000 | 3 | 2009 | 2018 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||
|
33 | 0.649 | 0.560 | 7 | 128238730 | upstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
6 | 0.827 | 0.200 | 6 | 131846837 | intron variant | C/T | snv | 5.3E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.776 | 0.280 | 7 | 151005693 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.925 | 0.120 | 7 | 151009827 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
11 | 0.763 | 0.320 | 7 | 151012483 | 3 prime UTR variant | G/T | snv | 0.38 | 0.32 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.160 | 4 | 155208030 | non coding transcript exon variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
52 | 0.597 | 0.720 | 3 | 186853334 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
6 | 0.827 | 0.120 | 2 | 226241205 | intergenic variant | C/T | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.925 | 0.080 | 11 | 27706992 | intron variant | A/C | snv | 0.83 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 6 | 28515705 | missense variant | A/C | snv | 0.38 | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 6 | 28526550 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 |