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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 15 | 50660473 | intron variant | T/C | snv | 7.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.080 | 12 | 71942989 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 11 | 18022863 | synonymous variant | A/G | snv | 6.0E-03 | 6.4E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.020 | 1.000 | 2 | 2012 | 2014 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.040 | 12 | 61858476 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 4594919 | intron variant | C/G | snv | 0.72 | 0.050 | 0.800 | 5 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 83880256 | missense variant | T/A | snv | 1.3E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.050 | 0.600 | 5 | 2007 | 2018 | ||||
|
5 | 0.851 | 0.160 | 17 | 30237152 | upstream gene variant | G/A | snv | 6.3E-02 | 0.030 | 0.667 | 3 | 2008 | 2018 | ||||
|
3 | 0.882 | 0.040 | 17 | 30228407 | intron variant | G/C | snv | 0.14 | 0.020 | 0.500 | 2 | 2015 | 2018 | ||||
|
3 | 0.925 | 0.120 | 17 | 30211356 | missense variant | T/C;G | snv | 7.4E-04 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
7 | 0.827 | 0.080 | 9 | 4576680 | synonymous variant | T/C | snv | 0.36 | 0.38 | 0.060 | 1.000 | 6 | 2007 | 2019 | |||
|
2 | 0.925 | 0.040 | 9 | 4582082 | intron variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2006 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 4564432 | synonymous variant | G/A | snv | 0.39 | 0.35 | 0.030 | 1.000 | 3 | 2007 | 2019 | |||
|
2 | 0.925 | 0.080 | 9 | 4586808 | 3 prime UTR variant | G/C | snv | 0.28 | 0.020 | 1.000 | 2 | 2013 | 2018 | ||||
|
1 | 1.000 | 0.040 | 9 | 4572480 | intron variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2007 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 4574022 | splice region variant | A/C | snv | 0.11 | 8.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 9 | 4582843 | intron variant | T/C | snv | 0.54 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.040 | 9 | 4576851 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.040 | 9 | 4567353 | intron variant | C/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 4559892 | non coding transcript exon variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.120 | 3 | 87264203 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 59237566 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 |