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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.790 | 0.240 | 9 | 137108433 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
23 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.851 | 0.360 | 2 | 15945602 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
24 | 0.742 | 0.360 | 6 | 78961751 | frameshift variant | C/- | del | 0.700 | 0 | ||||||||
|
14 | 0.790 | 0.280 | 6 | 78982908 | frameshift variant | CTTT/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.776 | 0.320 | 8 | 60781285 | frameshift variant | AA/T | delins | 0.700 | 0 | ||||||||
|
27 | 0.716 | 0.520 | 16 | 23607891 | frameshift variant | T/- | del | 2.1E-05 | 0.700 | 0 | |||||||
|
6 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
5 | 0.851 | 0.080 | 6 | 35503763 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.120 | 6 | 49459376 | stop gained | G/A | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
11 | 0.776 | 0.280 | 11 | 66530934 | frameshift variant | TG/- | del | 1.4E-05 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.280 | 5 | 134874531 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.160 | X | 13756600 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 6 | 121447428 | missense variant | A/C | snv | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.080 | 17 | 56594774 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 0.925 | 0.080 | 10 | 121515287 | missense variant | G/A | snv | 3.5E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
1 | 1.000 | 0.080 | 22 | 45542278 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.080 | 8 | 38419718 | missense variant | C/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
5 | 0.827 | 0.120 | 6 | 121447563 | missense variant | G/A | snv | 2.4E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.080 | 6 | 45492058 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
6 | 0.807 | 0.320 | 12 | 2504538 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.807 | 0.320 | 12 | 2504944 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.080 | 8 | 38421872 | missense variant | C/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
9 | 0.807 | 0.120 | 10 | 121517460 | missense variant | C/A;T | snv | 2.4E-05 | 0.020 | 1.000 | 2 | 2002 | 2004 | ||||
|
41 | 0.617 | 0.600 | 10 | 121520163 | missense variant | G/A;C | snv | 5.6E-05; 4.0E-06 | 0.030 | 1.000 | 3 | 1998 | 2004 |