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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.200 | 12 | 78807293 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.882 | 0.120 | 13 | 26337623 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 17 | 64044166 | missense variant | C/G;T | snv | 4.4E-06; 4.9E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
34 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 15 | 48463993 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 4 | 78337784 | missense variant | G/A | snv | 2.8E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.240 | 4 | 78511299 | missense variant | G/A | snv | 5.2E-03 | 5.8E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 78450199 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.280 | 13 | 38691375 | missense variant | G/A;T | snv | 3.5E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 13 | 38692338 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.120 | 13 | 38784727 | inframe deletion | TCT/- | delins | 2.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 11750175 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | 18 | 22172215 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.120 | 18 | 22181516 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
8 | 0.807 | 0.160 | 18 | 22171856 | stop gained | G/T | snv | 0.710 | 1.000 | 1 | 2014 | 2014 | |||||
|
17 | 0.724 | 0.320 | 20 | 35438203 | 5 prime UTR variant | G/A | snv | 0.47 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.120 | 7 | 41966347 | missense variant | G/C | snv | 8.4E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.200 | 11 | 61766173 | frameshift variant | GCACCGGGCCCCCCATC/T | delins | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.280 | 5 | 36984990 | frameshift variant | CT/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.827 | 0.240 | 17 | 39673099 | missense variant | T/C;G | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
8 | 0.827 | 0.280 | 16 | 8811099 | stop gained | G/A;T | snv | 1.1E-04; 5.2E-06 | 0.700 | 0 | |||||||
|
16 | 0.790 | 0.280 | 8 | 116847620 | inframe deletion | GTT/- | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 3 | 25596566 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 | |||||
|
9 | 0.851 | 0.120 | 3 | 25596428 | missense variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2013 | 2016 |