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 | 12 | 12718118 | frameshift variant | -/T | ins | 0.700 | 0 | ||||||||||
|
1 | 12 | 12718173 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
48 | 0.623 | 0.280 | 7 | 55191846 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.716 | 0.280 | 5 | 112837567 | missense variant | A/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
8 | 0.807 | 0.240 | 9 | 21974757 | missense variant | C/A;G;T | snv | 1.7E-05; 1.3E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 17 | 7675056 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
31 | 0.677 | 0.280 | 1 | 45331556 | missense variant | C/T | snv | 3.0E-03 | 3.3E-03 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 12 | 12717966 | stop gained | C/TAA | delins | 0.700 | 0 | ||||||||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.020 | 1.000 | 2 | 2016 | 2016 | |||||
|
33 | 0.667 | 0.360 | 22 | 28695869 | frameshift variant | G/- | del | 2.0E-03 | 1.8E-03 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 10 | 87864524 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 1.000 | 0.080 | 4 | 54727443 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.160 | 19 | 1220434 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 0.080 | 4 | 54274869 | missense variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
12 | 0.790 | 0.120 | 4 | 54727447 | missense variant | T/A;C;G | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
1 | 4 | 152346994 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
6 | 0.925 | 0.040 | 17 | 7674956 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.827 | 0.200 | 3 | 10149916 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |