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 | 0.080 | X | 111401067 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401081 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401084 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | X | 111401087 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111401088 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401099 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | X | 111401108 | missense variant | C/A;T | snv | 9.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 111401109 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401110 | frameshift variant | CACAGCCT/- | del | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | X | 111401121 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111401123 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401124 | missense variant | G/C;T | snv | 5.5E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | X | 111401138 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | X | 111401139 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401144 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401157 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111401162 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 111401163 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401175 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401191 | frameshift variant | ACTGTTGCTGC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401216 | frameshift variant | TG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401217 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401244 | stop gained | T/A;C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401282 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | X | 111401283 | missense variant | A/G | snv | 0.700 | 0 |