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 | 16 | 2111442 | missense variant | G/A | snv | 2.1E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.120 | 16 | 2094127 | stop gained | C/A;T | snv | 9.4E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 16 | 2100027 | inframe deletion | GCT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2111624 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.120 | 16 | 2103746 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2117579 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2108743 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2100396 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090418 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2097725 | splice donor variant | AC/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2118296 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2089813 | missense variant | G/A | snv | 3.7E-03 | 3.3E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 16 | 2090179 | missense variant | G/A;T | snv | 9.3E-04; 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2106475 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2092492 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090776 | stop gained | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2113185 | missense variant | C/G | snv | 8.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2118717 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090191 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
2 | 1.000 | 0.120 | 16 | 2117844 | stop gained | G/A;T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2092500 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2100552 | missense variant | C/T | snv | 8.1E-06 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2109801 | stop gained | G/A;C | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2108919 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2100465 | missense variant | T/A | snv | 9.9E-04 | 1.2E-03 | 0.700 | 1.000 | 20 | 1996 | 2009 |