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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.695 | 0.400 | 2 | 138002079 | missense variant | C/T | snv | 1.0E-01 | 8.4E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
23 | 0.701 | 0.200 | 3 | 8760542 | intron variant | G/A | snv | 0.16 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
31 | 0.708 | 0.320 | 6 | 35639794 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
28 | 0.716 | 0.520 | 20 | 58903703 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.724 | 0.320 | 7 | 34778501 | missense variant | A/T | snv | 0.44 | 0.47 | 0.020 | 0.500 | 2 | 2014 | 2015 | |||
|
25 | 0.724 | 0.200 | 12 | 71938143 | upstream gene variant | G/T | snv | 0.27 | 0.020 | 1.000 | 2 | 2005 | 2009 | ||||
|
16 | 0.724 | 0.480 | 5 | 143278056 | 3 prime UTR variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.050 | 1.000 | 5 | 2003 | 2018 | |||
|
15 | 0.732 | 0.320 | 5 | 223509 | stop gained | C/T | snv | 2.0E-04 | 2.4E-04 | 0.700 | 1.000 | 4 | 2010 | 2017 | |||
|
16 | 0.732 | 0.280 | 9 | 133635393 | upstream gene variant | T/C | snv | 0.80 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
18 | 0.732 | 0.360 | 10 | 87952142 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.080 | 1.000 | 8 | 2006 | 2013 | ||||
|
16 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
13 | 0.742 | 0.240 | 15 | 78596058 | 3 prime UTR variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.742 | 0.320 | 6 | 30064745 | 3 prime UTR variant | A/C | snv | 5.4E-02 | 5.9E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
14 | 0.742 | 0.280 | 10 | 87931090 | splice donor variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
13 | 0.752 | 0.400 | 11 | 68433827 | missense variant | C/T | snv | 0.13 | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
21 | 0.752 | 0.320 | 6 | 79025582 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
21 | 0.752 | 0.320 | 6 | 79042844 | frameshift variant | GT/A | delins | 0.700 | 0 |