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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.160 | 7 | 7932654 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 19 | 45099523 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 5098945 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
7 | 0.790 | 0.240 | 10 | 61958720 | intron variant | C/A | snv | 0.49 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 2 | 200659013 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.040 | 17 | 42262061 | intron variant | T/A;C | snv | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.925 | 0.080 | 7 | 116547052 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 17 | 42344145 | intron variant | A/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
14 | 0.724 | 0.320 | 5 | 83076846 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
13 | 0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
77 | 0.555 | 0.680 | 6 | 151842200 | intron variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 11 | 108334154 | intron variant | C/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.763 | 0.120 | 17 | 42300657 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 11 | 2405754 | intron variant | G/C | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.120 | 22 | 43001030 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
15 | 0.716 | 0.280 | 5 | 83323739 | intron variant | -/CCT | delins | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.776 | 0.160 | 2 | 203729789 | intron variant | T/C | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 1.000 | 0.040 | 7 | 116553675 | intron variant | T/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.120 | 18 | 77002561 | intron variant | G/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
17 | 0.732 | 0.280 | 7 | 116539780 | intron variant | G/A | snv | 7.6E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.925 | 0.080 | 7 | 116557191 | intron variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2013 | 2013 |