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 | 0.040 | 10 | 102504196 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 10 | 102504263 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102504322 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102504327 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102509168 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
2 | 0.925 | 0.160 | 10 | 102549993 | frameshift variant | G/- | del | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102550088 | stop gained | C/T | snv | 1.4E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.160 | 10 | 102550107 | splice donor variant | G/A | snv | 0.700 | 1.000 | 2 | 2012 | 2014 | |||||
|
2 | 0.925 | 0.160 | 10 | 102592711 | frameshift variant | -/TA | delins | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.160 | 10 | 102597207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102597223 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 10 | 102597278 | frameshift variant | -/TGTGT | ins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.160 | 10 | 102599545 | splice donor variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2011 | 2014 | |||||
|
2 | 0.925 | 0.160 | 10 | 102615266 | splice acceptor variant | A/T | snv | 0.700 | 0 | ||||||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.120 | 5 | 112819224 | frameshift variant | AA/- | del | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 5 | 112839481 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
17 | 0.732 | 0.200 | 5 | 112839543 | missense variant | G/C | snv | 4.4E-03 | 5.6E-03 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.882 | 0.120 | 5 | 112839549 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
1 | 1.000 | 0.040 | 5 | 112840008 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
26 | 0.677 | 0.440 | 1 | 114716123 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.708 | 0.320 | 1 | 114716124 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 0.807 | 0.200 | 3 | 12416775 | synonymous variant | C/A;G;T | snv | 8.0E-06; 4.2E-03; 7.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.701 | 0.200 | 7 | 129206557 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2020 | 2020 |