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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.040 | 6 | 43178806 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
26 | 0.677 | 0.400 | 22 | 30615623 | missense variant | G/A;C | snv | 5.6E-05; 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.925 | 0.120 | 11 | 72221370 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.040 | 5 | 173232938 | synonymous variant | C/G | snv | 9.9E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 1.000 | 0.040 | 10 | 133420125 | missense variant | A/G;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.120 | 14 | 66965293 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 2 | 74498109 | missense variant | T/C | snv | 1.7E-04 | 1.8E-04 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 5 | 173233109 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.807 | 0.200 | 7 | 97869011 | missense variant | C/T | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.120 | 2 | 38075022 | missense variant | A/G | snv | 3.3E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 5 | 173233003 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
54 | 0.689 | 0.320 | 7 | 40046006 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
21 | 0.716 | 0.400 | 2 | 42770143 | frameshift variant | -/A | delins | 1.7E-05 | 1.4E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
13 | 0.752 | 0.160 | 5 | 173235021 | synonymous variant | T/C | snv | 0.41 | 0.44 | 0.020 | 1.000 | 2 | 2016 | 2019 | |||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
10 | 0.882 | 0.080 | 2 | 112098688 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
105 | 0.514 | 0.760 | 20 | 34990448 | mature miRNA variant | A/G | snv | 0.20 | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 4 | 166003545 | missense variant | A/G | snv | 8.0E-06 | 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
7 | 0.851 | 0.120 | 4 | 4646320 | intron variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2015 | 2016 |