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 | 2091571 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2092152 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2102629 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2103295 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2105425 | missense variant | T/C | snv | 4.4E-02 | 0.19 | 0.700 | 0 | ||||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
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 | |||
|
2 | 1.000 | 0.120 | 16 | 2090140 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2108253 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090508 | frameshift variant | GGTAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2100027 | inframe deletion | GCT/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2106622 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2117579 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2116855 | stop gained | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2091861 | stop gained | G/T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2094179 | missense variant | G/C | snv | 1.3E-03 | 7.6E-04 | 0.700 | 1.000 | 20 | 1996 | 2009 | |||
|
1 | 1.000 | 0.120 | 16 | 2109540 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2103390 | missense variant | G/C | snv | 1.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2106022 | missense variant | G/C | snv | 4.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.120 | 16 | 2108569 | missense variant | G/A;T | snv | 1.1E-02 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2090179 | missense variant | G/A;T | snv | 9.3E-04; 4.2E-06 | 0.700 | 0 | |||||||
|
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 | 2099917 | stop gained | G/A;T | snv | 6.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2106459 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2106619 | missense variant | G/A;T | snv | 0.700 | 0 |