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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
26 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 21 | 18398320 | frameshift variant | AGTGC/- | del | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 1 | 112514896 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del | 0.700 | 0 | ||||||||
|
13 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 0.925 | 0.040 | 21 | 45530803 | missense variant | C/T | snv | 1.1E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
15 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
9 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 5 | 148483142 | 3 prime UTR variant | A/G | snv | 2.1E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
1 | 1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 2 | 233669782 | intron variant | C/T | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.040 | 1 | 97450068 | synonymous variant | A/G | snv | 5.1E-02 | 4.3E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
13 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.030 | 1.000 | 3 | 2016 | 2017 | |||
|
1 | 5 | 80781309 | intron variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 0.925 | 0.040 | 6 | 160139849 | inframe deletion | GAT/- | delins | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 6 | 73040138 | intron variant | A/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 0.882 | 0.160 | 1 | 97402157 | intron variant | C/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 1.000 | 11 | 18033757 | intron variant | T/G | snv | 0.19 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
1 | 5 | 80669717 | intron variant | A/G | snv | 0.23 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.040 | 5 | 76975028 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 |