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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
31 | 0.742 | 0.320 | 18 | 12337505 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 1.000 | 0.120 | 21 | 46114006 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
13 | 0.763 | 0.480 | 13 | 110179387 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
47 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
33 | 0.701 | 0.240 | 16 | 2176350 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 1 | 119033203 | missense variant | T/C | snv | 6.4E-05 | 2.3E-04 | 0.700 | 0 | ||||||
|
3 | 2 | 32116153 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||||
|
53 | 0.677 | 0.440 | 2 | 209976305 | splice donor variant | T/G | snv | 0.700 | 0 | ||||||||
|
45 | 0.724 | 0.440 | 7 | 39950821 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
5 | 1.000 | 0.080 | 14 | 64767787 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 21 | 34834536 | stop gained | C/A | snv | 0.700 | 0 | ||||||||
|
34 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
44 | 0.701 | 0.480 | 4 | 106171094 | splice donor variant | CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- | delins | 0.700 | 0 | ||||||||
|
17 | 0.776 | 0.320 | 8 | 63065904 | splice region variant | C/A;T | snv | 2.0E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 9 | 110687218 | missense variant | A/G | snv | 2.4E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
3 | 1.000 | 9 | 110800760 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 1 | 119033279 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
24 | 0.763 | 0.320 | 10 | 95633012 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
8 | 0.882 | 0.400 | 6 | 157207241 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.020 | 1.000 | 2 | 2012 | 2018 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.020 | 0.500 | 2 | 2011 | 2012 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.020 | 1.000 | 2 | 2008 | 2019 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.020 | 1.000 | 2 | 2009 | 2012 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2011 | 2012 | ||||
|
3 | 0.925 | 0.080 | 5 | 148827354 | missense variant | C/A;T | snv | 0.23; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |