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 | 7676210 | stop gained | -/CATT | delins | 0.700 | 0 | ||||||||
|
1 | 0.925 | 0.160 | 17 | 7675175 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675197 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 17 | 7674191 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7676011 | stop gained | T/A;C;G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.200 | 17 | 7673704 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675064 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675115 | stop gained | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676176 | stop gained | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670664 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7670673 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674871 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674921 | stop gained | CC/AG | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674936 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7674939 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 17 | 7676059 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676071 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.240 | 17 | 7673728 | stop gained | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
3 | 0.851 | 0.280 | 17 | 7674945 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
26 | 0.641 | 0.440 | 17 | 7674894 | stop gained | G/A;C | snv | 0.710 | 1.000 | 0 | 1998 | 1998 | |||||
|
2 | 0.925 | 0.200 | 17 | 7675101 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.200 | 17 | 7675119 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 17 | 7670685 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7675182 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 17 | 7676028 | stop gained | A/G;T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 |