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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 16 | 62031776 | intron variant | TA/- | del | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 3 | 141059454 | intron variant | GAG/- | delins | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 12 | 26124961 | 5 prime UTR variant | ACACGCACAC/-;ACACGCACACACACGCACAC | delins | 1.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 5 | 39203496 | intron variant | TT/-;T;TTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.040 | 6 | 1402916 | intergenic variant | GACA/- | delins | 1.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 11 | 123679999 | downstream gene variant | -/A | delins | 9.2E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 4 | 40985283 | intron variant | A/-;AA;AAA | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 12 | 51525350 | intergenic variant | ATTTATTT/-;ATTT;ATTTATTTATTT | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.962 | 26 | 2003 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.957 | 23 | 2003 | 2019 | ||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.090 | 0.889 | 9 | 2009 | 2019 | |||
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.040 | 1.000 | 4 | 2012 | 2014 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 0.500 | 4 | 2008 | 2015 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.040 | 1.000 | 4 | 1999 | 2009 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2001 | 2018 | |||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.030 | 0.667 | 3 | 2010 | 2018 | |||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.030 | 1.000 | 3 | 2001 | 2002 | |||
|
40 | 0.645 | 0.200 | 5 | 63962738 | intron variant | C/G | snv | 0.49 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.030 | 1.000 | 3 | 2014 | 2015 | |||
|
10 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 0.030 | 0.667 | 3 | 2005 | 2015 | |||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2011 | 2017 | |||||
|
15 | 0.763 | 0.160 | 11 | 18026269 | intron variant | G/T | snv | 0.33 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.020 | < 0.001 | 2 | 2010 | 2011 | ||||
|
9 | 0.790 | 0.320 | 12 | 121162450 | missense variant | T/A;C;G | snv | 0.51 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
4 | 0.882 | 0.040 | 5 | 63960164 | intron variant | A/C;G | snv | 0.020 | 1.000 | 2 | 2010 | 2013 |