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 | 0.160 | 13 | 40807379 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.800 | 1.000 | 7 | 1999 | 2009 | |||
|
1 | 1.000 | 0.160 | 13 | 40799080 | missense variant | G/A | snv | 2.0E-05 | 0.800 | 1.000 | 7 | 1999 | 2009 | ||||
|
1 | 1.000 | 0.160 | 13 | 40809585 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.800 | 1.000 | 7 | 1999 | 2009 | ||||
|
1 | 1.000 | 0.160 | 13 | 40799111 | missense variant | T/C;G | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 1999 | 2009 | ||||
|
1 | 1.000 | 0.160 | 13 | 40799213 | missense variant | T/A | snv | 0.800 | 1.000 | 7 | 1999 | 2009 | |||||
|
1 | 1.000 | 0.160 | 13 | 40809576 | missense variant | C/T | snv | 6.8E-05 | 3.5E-05 | 0.800 | 1.000 | 7 | 1999 | 2009 | |||
|
2 | 1.000 | 0.160 | 13 | 40807376 | stop gained | C/T | snv | 6.8E-05 | 4.9E-05 | 0.730 | 1.000 | 3 | 2000 | 2015 | |||
|
1 | 1.000 | 0.160 | 13 | 40799081 | missense variant | G/A | snv | 1.4E-05 | 0.710 | 1.000 | 7 | 1999 | 2009 | ||||
|
1 | 1.000 | 0.160 | 13 | 40809584 | stop gained | C/T | snv | 8.0E-06 | 6.3E-05 | 0.710 | 1.000 | 4 | 2001 | 2012 | |||
|
1 | 1.000 | 0.160 | 13 | 40799096 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.710 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.160 | 13 | 40808461 | missense variant | G/A | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2009 | ||||
|
1 | 1.000 | 0.160 | 13 | 40807394 | inframe deletion | TTC/- | delins | 2.1E-05 | 0.700 | 1.000 | 5 | 1999 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 40799209 | missense variant | GC/TT | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 40807405 | missense variant | C/G;T | snv | 8.0E-06; 8.5E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 40805249 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 40805140 | missense variant | G/A;T | snv | 7.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 40807410 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 40808473 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 13 | 40793270 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 40809579 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 40809608 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 |