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 | 0.120 | 17 | 42543699 | missense variant | C/T | snv | 3.2E-05 | 3.5E-05 | 0.800 | 1.000 | 21 | 1998 | 2017 | |||
|
1 | 1.000 | 0.120 | 17 | 42541059 | missense variant | G/A;C | snv | 1.2E-05 | 0.800 | 1.000 | 18 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42543450 | missense variant | C/A;T | snv | 2.7E-05 | 1.4E-05 | 0.800 | 1.000 | 17 | 1998 | 2017 | |||
|
1 | 1.000 | 0.120 | 17 | 42543955 | missense variant | G/A;T | snv | 4.1E-06 | 0.800 | 1.000 | 17 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42538691 | missense variant | C/T | snv | 3.2E-05 | 7.0E-06 | 0.810 | 1.000 | 16 | 1998 | 2017 | |||
|
1 | 1.000 | 0.120 | 17 | 42544026 | missense variant | C/T | snv | 1.6E-05 | 2.1E-05 | 0.800 | 1.000 | 16 | 1998 | 2017 | |||
|
1 | 1.000 | 0.120 | 17 | 42543934 | missense variant | G/A | snv | 0.700 | 1.000 | 15 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 42543933 | missense variant | C/A;T | snv | 4.2E-06 | 0.800 | 1.000 | 15 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42543568 | missense variant | C/T | snv | 2.0E-05 | 2.1E-05 | 0.800 | 1.000 | 15 | 1998 | 2017 | |||
|
1 | 1.000 | 0.120 | 17 | 42541125 | missense variant | T/C | snv | 0.700 | 1.000 | 15 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 42536507 | missense variant | G/A | snv | 2.8E-05 | 0.700 | 1.000 | 15 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42541024 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42536384 | missense variant | C/T | snv | 7.1E-06 | 0.700 | 1.000 | 15 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42538734 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42536546 | missense variant | T/C | snv | 0.800 | 1.000 | 15 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 42543857 | missense variant | G/T | snv | 0.700 | 1.000 | 15 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 42543451 | missense variant | G/A | snv | 0.700 | 1.000 | 15 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 42543370 | missense variant | A/C;G | snv | 4.1E-06; 1.6E-05 | 0.700 | 1.000 | 15 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42543235 | missense variant | T/A;C | snv | 4.0E-06; 1.6E-05 | 0.700 | 1.000 | 15 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42541185 | missense variant | G/A;T | snv | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 15 | 1998 | 2017 | |||
|
1 | 1.000 | 0.120 | 17 | 42541189 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2017 | |||
|
1 | 1.000 | 0.120 | 17 | 42537475 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 15 | 1998 | 2017 | ||||
|
1 | 1.000 | 0.120 | 17 | 42536415 | missense variant | T/C;G | snv | 0.700 | 1.000 | 15 | 1998 | 2017 | |||||
|
1 | 1.000 | 0.120 | 17 | 42536480 | frameshift variant | -/GCGCG | delins | 0.700 | 1.000 | 3 | 1999 | 2010 | |||||
|
1 | 1.000 | 0.120 | 17 | 42536615 | missense variant | C/T | snv | 0.700 | 1.000 | 3 | 1998 | 2015 |