| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 0.700 | 1.000 | 11 | 2001 | 2014 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.080 | 1.000 | 8 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.200 | 3 | 36993651 | missense variant | TG/AC | mnv | 0.800 | 1.000 | 7 | 1995 | 2015 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.070 | 1.000 | 7 | 2007 | 2019 | |||||
|
2 | 1.000 | 0.160 | 7 | 6003724 | missense variant | G/A | snv | 1.3E-05 | 0.700 | 1.000 | 5 | 1995 | 2016 | ||||
|
1 | 1.000 | 0.160 | 7 | 5987302 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.700 | 1.000 | 5 | 1995 | 2016 | ||||
|
3 | 0.925 | 0.200 | 7 | 5999199 | missense variant | T/G | snv | 8.0E-06 | 0.700 | 1.000 | 5 | 1995 | 2016 | ||||
|
2 | 0.925 | 0.200 | 7 | 5997342 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 5 | 1995 | 2016 | ||||
|
1 | 1.000 | 0.160 | 7 | 5992040 | missense variant | A/C | snv | 0.700 | 1.000 | 5 | 1995 | 2016 | |||||
|
2 | 0.925 | 0.200 | 7 | 5987328 | missense variant | G/A;C | snv | 1.6E-05; 4.2E-03 | 0.700 | 1.000 | 5 | 1995 | 2016 | ||||
|
13 | 0.763 | 0.400 | 7 | 5978664 | missense variant | T/A;G | snv | 0.020 | 1.000 | 2 | 2014 | 2019 | |||||
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
1 | 1.000 | 0.160 | 7 | 5987327 | missense variant | C/G;T | snv | 8.0E-06; 2.8E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.160 | 7 | 5987601 | frameshift variant | A/- | del | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.790 | 0.240 | 2 | 47410107 | missense variant | A/C;G;T | snv | 5.8E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
11 | 0.790 | 0.200 | 2 | 47416318 | missense variant | G/A;T | snv | 1.3E-02; 2.0E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.827 | 0.240 | 7 | 5995614 | stop gained | G/A;C | snv | 8.0E-06; 8.0E-05 | 0.710 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.160 | 2 | 189863996 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.882 | 0.200 | 2 | 47799854 | missense variant | G/A;T | snv | 2.8E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.882 | 0.200 | 7 | 5987033 | frameshift variant | GC/ACT | delins | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.320 | 7 | 6005918 | missense variant | C/A;T | snv | 1.6E-04; 8.1E-06 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.160 | 7 | 6004003 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.200 | 3 | 37020309 | splice acceptor variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | 3 | 37000952 | splice region variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.240 | 3 | 37001058 | splice region variant | G/A | snv | 0.700 | 0 |