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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 5 | 173233011 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
3 | 1.000 | 5 | 173232776 | stop gained | A/C;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||||
|
8 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
27 | 0.724 | 0.440 | 9 | 130872961 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 7 | 35204548 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
111 | 0.512 | 0.760 | 12 | 53991815 | mature miRNA variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.882 | 0.120 | 2 | 178577785 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
23 | 0.752 | 0.280 | 17 | 63957514 | missense variant | C/T | snv | 8.2E-06 | 1.4E-05 | 0.700 | 1.000 | 2 | 2004 | 2008 | |||
|
12 | 0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.280 | X | 134425256 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 9 | 6977633 | intron variant | G/A | snv | 0.75 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
12 | 0.882 | 0.080 | 11 | 17430838 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 5 | 173233003 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 85581440 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
36 | 0.701 | 0.360 | 17 | 61400235 | missense variant | G/A | snv | 6.5E-05 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.080 | 4 | 166003471 | missense variant | T/C | snv | 2.1E-04 | 2.4E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 7 | 151007245 | missense variant | C/G | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 6 | 43178806 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.851 | 0.160 | 11 | 17404552 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
5 | 0.882 | 0.120 | X | 100689933 | missense variant | G/A | snv | 5.6E-04 | 3.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
24 | 0.790 | 0.320 | 11 | 4091328 | missense variant | C/G;T | snv | 4.4E-05 | 0.700 | 0 | |||||||
|
6 | 0.882 | 0.080 | 14 | 23393437 | missense variant | C/A;T | snv | 9.3E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |