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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.240 | 13 | 32354921 | frameshift variant | CT/- | delins | 2.8E-05 | 0.700 | 1.000 | 6 | 2005 | 2013 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.040 | 1.000 | 4 | 2007 | 2018 | ||||
|
5 | 0.827 | 0.120 | 20 | 10306440 | 3 prime UTR variant | T/C | snv | 0.20 | 0.030 | 0.667 | 3 | 2007 | 2013 | ||||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
7 | 0.827 | 0.040 | 12 | 79430071 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2017 | 2019 | |||||
|
2 | 1.000 | 0.040 | 16 | 55661194 | intron variant | C/T | snv | 8.6E-02 | 0.030 | 1.000 | 3 | 2008 | 2018 | ||||
|
3 | 0.882 | 0.080 | 5 | 1431049 | intron variant | G/C | snv | 0.31 | 0.030 | 1.000 | 3 | 2007 | 2014 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.030 | 0.667 | 3 | 2010 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 20683524 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.040 | 4 | 61873823 | intron variant | G/A | snv | 0.59 | 0.030 | 1.000 | 3 | 2015 | 2019 | ||||
|
5 | 0.827 | 0.040 | 12 | 71938373 | upstream gene variant | T/A | snv | 0.12 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
9 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 0.810 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 55692146 | intron variant | C/T | snv | 5.3E-03 | 0.020 | 1.000 | 2 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 10 | 126084807 | intron variant | A/G | snv | 0.61 | 0.700 | 1.000 | 2 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | X | 7256158 | intron variant | G/A | snv | 7.1E-02 | 0.020 | 1.000 | 2 | 2008 | 2011 | ||||
|
3 | 0.925 | 0.040 | 9 | 90646879 | upstream gene variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2011 | 2016 | |||||
|
2 | 0.925 | 0.040 | 5 | 43054645 | intron variant | A/G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||
|
1 | 1.000 | 0.040 | 16 | 55697663 | intron variant | G/T | snv | 0.29 | 0.020 | 1.000 | 2 | 2015 | 2019 | ||||
|
2 | 1.000 | 0.040 | X | 7336440 | intron variant | C/G | snv | 0.22 | 0.020 | 1.000 | 2 | 2011 | 2017 | ||||
|
12 | 0.790 | 0.160 | 10 | 111076745 | upstream gene variant | G/C | snv | 0.59 | 0.020 | 1.000 | 2 | 2010 | 2014 | ||||
|
8 | 0.827 | 0.160 | 11 | 636784 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2011 | 2013 | |||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 12 | 79203668 | intron variant | G/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2017 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 96513405 | regulatory region variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 9 | 133644512 | intron variant | T/C | snv | 0.40 | 0.020 | 1.000 | 2 | 2006 | 2010 |