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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.440 | 10 | 121517390 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.752 | 0.440 | 10 | 121565500 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.742 | 0.480 | 10 | 121515254 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 10 | 121519997 | inframe deletion | AGCCCGTCGGGCCCGTATTTACTGCCGTTCTTTTCCACGTGCTTGATCCACTGGATGTGGGGC/- | delins | 0.700 | 0 | ||||||||
|
28 | 0.667 | 0.560 | 10 | 121520160 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.732 | 0.280 | 10 | 121520106 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
13 | 0.724 | 0.240 | 6 | 156778678 | missense variant | C/G | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
13 | 0.742 | 0.160 | 10 | 121520010 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
49 | 0.600 | 0.520 | 4 | 1801844 | missense variant | C/A;G;T | snv | 4.2E-06; 4.2E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 1.000 | 0.120 | 10 | 121515289 | missense variant | G/C;T | snv | 0.810 | 1.000 | 3 | 1996 | 2008 | |||||
|
17 | 0.708 | 0.640 | 10 | 121515280 | missense variant | T/C | snv | 0.810 | 1.000 | 3 | 1996 | 2007 | |||||
|
2 | 0.925 | 0.120 | 10 | 121520084 | missense variant | GC/AA;TA | mnv | 0.700 | 1.000 | 4 | 1995 | 2014 | |||||
|
4 | 0.851 | 0.120 | 10 | 121517391 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 4 | 1996 | 2013 | |||||
|
15 | 0.716 | 0.440 | 10 | 121517371 | synonymous variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 1994 | 2015 | ||||
|
25 | 0.716 | 0.440 | 10 | 121517378 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 10 | 1995 | 2016 |