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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.716 | 0.600 | 6 | 157181056 | stop gained | C/A;T | snv | 0.700 | 1.000 | 2 | 2012 | 2015 | |||||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.882 | 0.040 | 5 | 150256777 | missense variant | C/G;T | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
14 | 0.851 | 0.240 | 21 | 44531087 | stop gained | G/A | snv | 3.2E-04 | 2.7E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
4 | 0.925 | 0.080 | 3 | 192335441 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.882 | 0.040 | 5 | 150250270 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.882 | 0.040 | 5 | 150250281 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.882 | 0.040 | 5 | 150252032 | missense variant | T/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.882 | 0.040 | 5 | 150256811 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
7 | 0.925 | 0.040 | 7 | 44241784 | splice acceptor variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
12 | 0.882 | 0.040 | 7 | 44242328 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
27 | 0.807 | 0.160 | 7 | 44243526 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 1.000 | 7 | 44254555 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
4 | 1.000 | 7 | 44284206 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
11 | 0.851 | 0.160 | 11 | 1442607 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.280 | 11 | 1443490 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.925 | 0.080 | 2 | 218643341 | stop gained | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
67 | 0.658 | 0.240 | 1 | 11128107 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
8 | 0.807 | 0.280 | 2 | 142956235 | stop gained | T/A | snv | 7.2E-05 | 4.9E-05 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
4 | 1.000 | 0.160 | 13 | 35550528 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
12 | 0.882 | 0.040 | 5 | 150251808 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
33 | 0.752 | 0.400 | 5 | 60927745 | intron variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
10 | 0.925 | 0.120 | 8 | 43192413 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.120 | 19 | 7527961 | splice donor variant | G/A;C | snv | 0.700 | 0 |