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 | 0.080 | 14 | 73170813 | missense variant | G/A | snv | 1.8E-04 | 2.9E-04 | 0.700 | 1.000 | 24 | 1995 | 2018 | |||
|
8 | 0.776 | 0.120 | 14 | 73170945 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.800 | 1.000 | 4 | 2010 | 2014 | ||||
|
1 | 1.000 | 0.080 | 14 | 73170953 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
7 | 0.827 | 0.160 | 14 | 73170963 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
3 | 0.882 | 0.080 | 14 | 73170974 | missense variant | G/T | snv | 0.700 | 1.000 | 4 | 2010 | 2014 | |||||
|
3 | 0.882 | 0.080 | 14 | 73170984 | missense variant | G/C | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
1 | 1.000 | 0.080 | 14 | 73170989 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 14 | 73170995 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
8 | 0.790 | 0.120 | 14 | 73170998 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73171024 | missense variant | T/G | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2018 | ||||
|
4 | 0.851 | 0.120 | 14 | 73173571 | missense variant | A/G | snv | 0.800 | 1.000 | 28 | 1995 | 2018 | |||||
|
6 | 0.827 | 0.120 | 14 | 73173574 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
1 | 1.000 | 0.080 | 14 | 73173576 | missense variant | C/G;T | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
6 | 0.807 | 0.120 | 14 | 73173577 | missense variant | C/G;T | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
1 | 1.000 | 0.080 | 14 | 73173583 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
3 | 0.882 | 0.080 | 14 | 73173585 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 73173587 | missense variant | A/C;T | snv | 0.800 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 14 | 73173630 | missense variant | A/G;T | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
6 | 0.827 | 0.120 | 14 | 73173631 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 1997 | 2017 | |||||
|
7 | 0.790 | 0.080 | 14 | 73173642 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 2010 | 2014 | |||||
|
5 | 0.827 | 0.080 | 14 | 73173643 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.120 | 14 | 73173644 | missense variant | G/A;C | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
2 | 0.925 | 0.080 | 14 | 73173654 | missense variant | A/G;T | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
4 | 0.851 | 0.080 | 14 | 73173655 | missense variant | T/A;C | snv | 0.700 | 1.000 | 20 | 1995 | 2018 | |||||
|
17 | 0.701 | 0.320 | 14 | 73173663 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 24 | 1995 | 2018 |