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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | 11 | 123679999 | downstream gene variant | -/A | delins | 9.2E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.080 | 13 | 73887725 | intron variant | -/A;AA | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
25 | 0.677 | 0.480 | 17 | 63488529 | intron variant | -/TTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCATACAGTCACTTTT | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 4 | 40985283 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.851 | 0.120 | 18 | 26940224 | intron variant | A/-;AA;AAA;AAAA | delins | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.827 | 0.080 | 7 | 82824392 | missense variant | A/C | snv | 0.45 | 0.34 | 0.780 | 1.000 | 9 | 2009 | 2017 | |||
|
9 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 165096466 | intron variant | A/C | snv | 0.61 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
6 | 0.827 | 0.080 | 6 | 15653418 | intron variant | A/C | snv | 0.26 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 82820719 | 3 prime UTR variant | A/C | snv | 0.57 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 15 | 37356201 | intergenic variant | A/C | snv | 0.48 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 4617005 | intergenic variant | A/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 4603975 | intergenic variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 11 | 47814169 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.790 | 0.120 | 6 | 77463665 | 5 prime UTR variant | A/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 12 | 98699448 | missense variant | A/C | snv | 9.5E-03 | 7.8E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
19 | 0.708 | 0.240 | 11 | 113932306 | missense variant | A/C | snv | 0.33 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 3 | 52675243 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 16 | 21628389 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 13 | 53072913 | intergenic variant | A/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 4 | 42121711 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.040 | 8 | 32840440 | intron variant | A/C | snv | 8.6E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 11 | 25863658 | intergenic variant | A/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |