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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 0.708 | 0.320 | 7 | 117587811 | stop gained | C/G;T | snv | 6.8E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117639961 | intron variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 7 | 117606754 | splice donor variant | G/A;C;T | snv | 1.0E-04 | 2.9E-04 | 0.700 | 0 | ||||||
|
15 | 0.732 | 0.440 | 7 | 117587806 | missense variant | G/A | snv | 1.8E-04 | 3.0E-04 | 0.700 | 0 | ||||||
|
13 | 0.742 | 0.280 | 7 | 117642566 | stop gained | G/A;C | snv | 4.6E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117509047 | stop gained | G/A;T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117530974 | missense variant | C/A;G;T | snv | 8.0E-06; 2.0E-05; 2.0E-04 | 0.700 | 0 | |||||||
|
18 | 0.716 | 0.240 | 7 | 117530975 | missense variant | G/A;C;T | snv | 1.5E-03; 1.2E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117531115 | splice donor variant | G/T | snv | 7.7E-05 | 1.0E-04 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 7 | 117611707 | stop gained | G/A | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 7 | 117627525 | stop gained | C/T | snv | 3.2E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 7 | 117602868 | splice region variant | G/A | snv | 7.6E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.160 | 7 | 117534318 | missense variant | G/A | snv | 1.6E-05 | 0.700 | 0 |