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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
38 | 0.683 | 0.480 | 7 | 21600085 | missense variant | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.925 | 12 | 48916993 | frameshift variant | A/- | del | 0.700 | 0 | |||||||||
|
4 | 1.000 | 0.120 | 14 | 54844138 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.280 | 15 | 55205623 | stop gained | G/A | snv | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
38 | 0.683 | 0.480 | 7 | 21710596 | stop gained | C/T | snv | 8.5E-05 | 8.4E-05 | 0.700 | 0 | ||||||
|
44 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 0.700 | 0 | |||||||
|
24 | 0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 | 0.020 | 1.000 | 2 | 2011 | 2014 | ||||
|
1 | 1 | 70911967 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
10 | 0.790 | 0.240 | 12 | 109792396 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 3 | 155140896 | intron variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 17 | 63489363 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1.000 | 0.080 | 10 | 69408971 | missense variant | C/T | snv | 7.0E-02 | 2.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 14 | 96222430 | intron variant | C/T | snv | 0.54 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 14 | 96209596 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
11 | 0.827 | 0.200 | 17 | 3577153 | missense variant | T/C | snv | 0.37 | 0.32 | 0.010 | 1.000 | 1 | 2010 | 2010 |