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 | 0.925 | 0.080 | 11 | 5226641 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
11 | 0.752 | 0.080 | 11 | 5226925 | splice region variant | C/A;G;T | snv | 4.0E-06; 5.9E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 11 | 5226930 | missense variant | C/G;T | snv | 1.0E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 11 | 5226688 | frameshift variant | AC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.080 | 11 | 5225923 | intron variant | G/A | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
11 | 0.752 | 0.080 | 11 | 5226820 | non coding transcript exon variant | C/T | snv | 1.6E-04 | 9.1E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.080 | 11 | 5225710 | missense variant | A/G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.050 | 1.000 | 5 | 2000 | 2019 | |||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.040 | 1.000 | 4 | 2004 | 2019 | |||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2009 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2010 | |||
|
11 | 0.790 | 0.240 | 2 | 233693556 | missense variant | A/C | snv | 0.35 | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.724 | 0.200 | 11 | 46729529 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
7 | 0.851 | 0.160 | 2 | 233693023 | missense variant | T/G | snv | 0.39 | 0.39 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
60 | 0.581 | 0.600 | 19 | 39252525 | upstream gene variant | T/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 |