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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 7 | 107663412 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.925 | 0.160 | 7 | 107710192 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 7 | 107704344 | missense variant | T/C | snv | 8.9E-06 | 0.700 | 1.000 | 2 | 2004 | 2018 | ||||
|
3 | 0.882 | 0.160 | 7 | 107672245 | missense variant | G/A;C;T | snv | 1.8E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.240 | 7 | 107661726 | stop gained | G/C;T | snv | 9.3E-05; 6.2E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.240 | 7 | 107689054 | missense variant | T/A;C | snv | 4.0E-06; 8.6E-04 | 0.800 | 1.000 | 12 | 1998 | 2017 | ||||
|
4 | 0.925 | 0.160 | 7 | 107690203 | missense variant | C/G;T | snv | 4.0E-06; 1.8E-04 | 0.800 | 1.000 | 33 | 1998 | 2019 | ||||
|
3 | 0.925 | 0.160 | 7 | 107675050 | missense variant | C/G | snv | 4.8E-05 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 7 | 107675060 | missense variant | T/A | snv | 2.0E-04 | 3.5E-05 | 0.800 | 1.000 | 17 | 1998 | 2019 | |||
|
2 | 0.925 | 0.160 | 7 | 107700162 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 1.000 | 4 | 1998 | 2016 | ||||
|
2 | 0.925 | 0.160 | 7 | 107674970 | missense variant | G/T | snv | 3.0E-04 | 3.8E-04 | 0.800 | 1.000 | 12 | 1998 | 2017 | |||
|
4 | 0.925 | 0.160 | 7 | 107690200 | missense variant | G/A;C | snv | 1.0E-04; 8.0E-06 | 0.800 | 1.000 | 25 | 1998 | 2019 | ||||
|
6 | 0.851 | 0.240 | 7 | 107694473 | missense variant | T/G | snv | 1.0E-04 | 7.7E-05 | 0.800 | 1.000 | 22 | 1998 | 2018 | |||
|
2 | 0.925 | 0.160 | 7 | 107695984 | missense variant | G/A;C | snv | 2.0E-05 | 6.3E-05 | 0.800 | 1.000 | 19 | 1998 | 2018 | |||
|
4 | 0.925 | 0.160 | 7 | 107698112 | splice donor variant | G/A;C;T | snv | 1.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 7 | 107683453 | splice acceptor variant | A/G | snv | 3.6E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.160 | 7 | 107702050 | missense variant | T/A | snv | 0.800 | 1.000 | 12 | 1998 | 2017 | |||||
|
3 | 0.925 | 0.160 | 7 | 107674326 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 1.000 | 5 | 2000 | 2017 | |||
|
2 | 1.000 | 0.120 | 7 | 107674337 | stop gained | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.160 | 7 | 107689156 | stop gained | A/G;T | snv | 0.800 | 1.000 | 16 | 1998 | 2017 | |||||
|
5 | 0.882 | 0.280 | 7 | 107710132 | missense variant | A/G | snv | 1.2E-04 | 3.5E-05 | 0.800 | 1.000 | 13 | 1998 | 2017 | |||
|
4 | 0.925 | 0.160 | 7 | 107710126 | missense variant | C/T | snv | 5.2E-05 | 2.8E-05 | 0.800 | 1.000 | 17 | 1998 | 2017 | |||
|
3 | 0.925 | 0.160 | 7 | 107689166 | missense variant | C/T | snv | 0.800 | 1.000 | 16 | 1998 | 2017 | |||||
|
2 | 0.925 | 0.160 | 7 | 107672230 | missense variant | T/A;C | snv | 0.700 | 1.000 | 4 | 2002 | 2017 | |||||
|
1 | 1.000 | 0.120 | 7 | 107696035 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2008 | 2008 |