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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.581 | 0.520 | 17 | 30237328 | upstream gene variant | T/C | snv | 0.18 | 0.050 | 0.200 | 5 | 2007 | 2020 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.040 | 14 | 96204324 | upstream gene variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.280 | 12 | 101770496 | inframe deletion | GTG/- | delins | 0.700 | 0 | ||||||||
|
2 | 4 | 46332685 | splice region variant | A/G;T | snv | 0.44 | 0.41 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 | 0.700 | 1.000 | 6 | 2005 | 2013 | ||||
|
4 | 1.000 | 6 | 33440746 | frameshift variant | -/AGGA | delins | 0.700 | 0 | |||||||||
|
5 | 1.000 | 9 | 127661133 | frameshift variant | A/- | delins | 0.700 | 0 | |||||||||
|
34 | 0.716 | 0.520 | 16 | 8901028 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
51 | 0.695 | 0.360 | 21 | 37472869 | frameshift variant | TAAC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 21 | 33028155 | 3 prime UTR variant | C/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.827 | 0.160 | 4 | 73743328 | 3 prime UTR variant | A/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 6 | 95606712 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
22 | 0.752 | 0.200 | 6 | 35574699 | 3 prime UTR variant | C/A | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
7 | 0.827 | 0.160 | 17 | 30196708 | 3 prime UTR variant | G/T | snv | 0.49 | 0.010 | < 0.001 | 1 | 2020 | 2020 | ||||
|
6 | 1.000 | 0.080 | 5 | 111482938 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
16 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2003 | 2005 | |||
|
5 | 0.925 | 0.080 | 17 | 45807036 | synonymous variant | C/T | snv | 3.1E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 |