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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.120 | X | 130137134 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.120 | 11 | 22262162 | missense variant | G/A;T | snv | 4.0E-06; 6.8E-05 | 0.700 | 0 | |||||||
|
3 | 1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.080 | 5 | 149006955 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.200 | X | 71224209 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 1 | 11998877 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.882 | 0.160 | 2 | 178535594 | frameshift variant | -/GT | delins | 0.700 | 0 | ||||||||
|
16 | 0.851 | 0.200 | 3 | 48592915 | stop gained | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
16 | 0.851 | 0.200 | 3 | 48575218 | missense variant | G/A | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
19 | 0.827 | 0.240 | 1 | 11992659 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 1 | 161306863 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 8 | 24956452 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.080 | 5 | 149026872 | stop gained | G/A | snv | 7.5E-04; 4.0E-06 | 6.6E-04 | 0.700 | 0 | ||||||
|
1 | 14 | 23415491 | inframe deletion | TGA/- | delins | 0.700 | 0 |