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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.040 | 1.000 | 4 | 2003 | 2015 | |||
|
14 | 0.724 | 0.320 | 13 | 32339320 | stop gained | C/A;G;R | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.827 | 0.200 | 13 | 32356550 | stop gained | C/T | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.200 | 13 | 32341169 | frameshift variant | AAGAG/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.200 | 13 | 32339386 | frameshift variant | AA/-;A | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 13 | 32330979 | missense variant | G/A | snv | 2.4E-05 | 1.4E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
3 | 0.882 | 0.120 | 13 | 32332593 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.160 | 13 | 32370430 | missense variant | G/A | snv | 3.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 13 | 32319232 | missense variant | G/C | snv | 2.6E-04 | 3.1E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.160 | 13 | 32394724 | missense variant | T/C | snv | 2.9E-04 | 2.5E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.160 | 13 | 32319134 | missense variant | A/G | snv | 1.6E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 13 | 32356497 | missense variant | G/A;C;T | snv | 6.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 13 | 32333367 | missense variant | C/T | snv | 2.1E-04 | 1.2E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 13 | 32380076 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 0 |