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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.925 | 0.160 | 19 | 35844109 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
73 | 0.641 | 0.560 | 17 | 75494905 | frameshift variant | -/A | delins | 4.0E-06 | 0.700 | 0 | |||||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 0.700 | 0 | ||||||
|
13 | 0.882 | 0.160 | 7 | 50463317 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
11 | 0.776 | 0.200 | 1 | 9982630 | missense variant | G/A | snv | 7.0E-04 | 8.5E-04 | 0.700 | 0 | ||||||
|
26 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 21 | 18398320 | frameshift variant | AGTGC/- | del | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 1 | 112514896 | stop gained | C/A;T | snv | 1.6E-05; 1.2E-05 | 0.700 | 0 | |||||||
|
15 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
8 | 0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del | 0.700 | 0 | ||||||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.030 | 1.000 | 3 | 2006 | 2019 | ||||
|
4 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.050 | 1.000 | 5 | 2009 | 2017 | ||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.020 | 0.500 | 2 | 2010 | 2010 | ||||
|
3 | 2 | 233618225 | missense variant | C/G;T | snv | 0.27; 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
5 | 0.851 | 0.160 | Y | 12919473 | 3 prime UTR variant | A/G | snv | 1.6E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 4 | 69108277 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 1 | 97573863 | synonymous variant | C/T | snv | 1.4E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 2 | 233669782 | intron variant | C/T | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
9 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 0.020 | 1.000 | 2 | 2014 | 2015 |