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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
64 | 0.672 | 0.520 | 3 | 132675903 | missense variant | G/A;T | snv | 1.9E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.320 | 6 | 157201464 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
10 | 0.851 | 0.120 | 16 | 9768994 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.160 | 17 | 42216054 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.240 | 17 | 42223402 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 2 | 209819105 | missense variant | G/C | snv | 1.4E-03 | 1.6E-03 | 0.700 | 0 | ||||||
|
27 | 0.763 | 0.320 | 3 | 132671032 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
13 | 0.790 | 0.200 | 2 | 190995184 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
52 | 0.667 | 0.400 | 9 | 77797577 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
25 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 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 | |||||||
|
6 | 0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
7 | 0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.020 | < 0.001 | 2 | 2013 | 2014 | |||
|
27 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 1 | 152350656 | stop gained | G/A;T | snv | 0.24 | 0.21 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 1 | 152354040 | missense variant | T/C | snv | 1.6E-02 | 6.1E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.120 | 3 | 32954436 | synonymous variant | C/T | snv | 0.25 | 0.23 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
99 | 0.521 | 0.760 | 12 | 47879112 | start lost | A/C;G;T | snv | 0.63 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 19 | 7669483 | intron variant | C/T | snv | 0.20 | 0.19 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.160 | 14 | 48081576 | intergenic variant | C/A | snv | 0.14 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 11 | 76567214 | intergenic variant | T/C | snv | 0.59 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.040 | 0.500 | 4 | 2002 | 2016 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 0.500 | 2 | 2012 | 2013 |