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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 2 | 47475221 | frameshift variant | ATGACGTA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 19 | 48799813 | missense variant | G/A;C | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 17 | 44907319 | 3 prime UTR variant | G/C;T | snv | 0.27; 1.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.040 | 19 | 2014038 | non coding transcript exon variant | A/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 15 | 90088633 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 10 | 45440776 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 0.925 | 0.040 | 13 | 28003551 | 3 prime UTR variant | G/T | snv | 0.46 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 13 | 107823165 | intron variant | C/T | snv | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 1 | 75898031 | missense variant | T/A;C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.040 | 6 | 26020589 | missense variant | G/A;C | snv | 1.2E-05; 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 5 | 81423306 | intron variant | C/T | snv | 0.22 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.040 | 20 | 63742354 | missense variant | G/T | snv | 0.71 | 0.78 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.040 | 7 | 55177954 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.240 | 11 | 108345859 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.040 | 2 | 25234308 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 10 | 87952118 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 8 | 129465577 | intron variant | C/T | snv | 0.80 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.040 | 7 | 55154128 | missense variant | GC/AA;AT | mnv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.080 | 7 | 55143386 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.120 | 1 | 11157172 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 1 | 22784698 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.120 | 4 | 177339718 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.040 | 16 | 24578078 | intergenic variant | T/G | snv | 0.11 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 2 | 55865477 | downstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 7 | 55165350 | missense variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |