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 | 0.080 | 1 | 156134890 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 201363407 | splice acceptor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 2 | 178609769 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.120 | 11 | 47342578 | stop gained | C/A;G | snv | 1.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 14 | 23404296 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 3 | 38603999 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 178609842 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.040 | 10 | 110812304 | missense variant | G/A | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.040 | 1 | 156115192 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
17 | 0.716 | 0.280 | 14 | 23425316 | missense variant | C/A;G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 0.040 | 2 | 178578066 | stop gained | G/A;T | snv | 4.0E-06; 5.6E-05 | 0.700 | 0 | |||||||
|
5 | 0.851 | 0.080 | 11 | 47349876 | frameshift variant | -/A | delins | 8.2E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 14 | 23424118 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 201364342 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.160 | 2 | 178574530 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 156137118 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 1 | 156136257 | missense variant | C/A;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 2 | 178548460 | stop gained | G/A;T | snv | 4.0E-06; 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 178531665 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 2 | 178605642 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 14 | 23428529 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 1 | 201361305 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.080 | 3 | 38560397 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 2 | 178559330 | frameshift variant | CTTT/- | del | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 2 | 178549998 | frameshift variant | -/T | delins | 8.1E-06 | 0.700 | 0 |