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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.050 | 1.000 | 5 | 2009 | 2017 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
64 | 0.564 | 0.760 | 7 | 87550285 | synonymous variant | A/G | snv | 0.54 | 0.63 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
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 | ||||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
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 | ||||||||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.020 | 0.500 | 2 | 2010 | 2010 | ||||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.030 | 1.000 | 3 | 2016 | 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 | |||||
|
13 | 0.752 | 0.400 | 4 | 88139962 | missense variant | C/T | snv | 0.11 | 7.4E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
15 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
16 | 0.742 | 0.320 | 12 | 21176804 | missense variant | A/G;T | snv | 0.47 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
26 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
15 | 0.827 | 0.320 | 17 | 80214291 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
12 | 0.776 | 0.280 | 10 | 94981296 | missense variant | A/C;G | snv | 6.3E-02; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
13 | 0.763 | 0.280 | 1 | 97883329 | missense variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
19 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
9 | 0.807 | 0.280 | 17 | 80212128 | missense variant | A/G | snv | 9.6E-05 | 1.5E-04 | 0.700 | 0 |