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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 0 | ||||||
|
35 | 0.752 | 0.280 | 7 | 140801502 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 6 | 148533885 | missense variant | G/A | snv | 6.8E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.040 | 1.000 | 4 | 2006 | 2019 | |||
|
5 | 0.851 | 0.200 | 21 | 44290023 | missense variant | C/A;G;T | snv | 0.14; 8.3E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
16 | 0.716 | 0.320 | 2 | 31580756 | missense variant | C/T | snv | 1.8E-02 | 2.1E-02 | 0.710 | 1.000 | 2 | 2007 | 2017 | |||
|
9 | 0.763 | 0.240 | X | 67545785 | synonymous variant | G/A | snv | 0.15 | 0.28 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2013 | |||
|
2 | 0.925 | 0.160 | 10 | 99797141 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.882 | 0.080 | 17 | 3524224 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
4 | 0.851 | 0.160 | 1 | 172665840 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 12 | 47855743 | missense variant | G/C;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
8 | 0.776 | 0.240 | 13 | 20189448 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.080 | 12 | 52567115 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.790 | 0.240 | 13 | 20189448 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 152100897 | intron variant | T/C | snv | 0.16 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.080 | 21 | 44289752 | missense variant | A/T | snv | 2.8E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 3 | 185519286 | missense variant | G/T | snv | 9.5E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.763 | 0.280 | X | 49246763 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.080 | X | 67546514 | frameshift variant | -/CGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCG | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.160 | 21 | 44241460 | upstream gene variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.200 | 6 | 31827773 | 5 prime UTR variant | C/G;T | snv | 8.5E-05; 9.3E-02; 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 18 | 31403494 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 6 | 7569259 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |