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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 0.807 | 0.280 | 17 | 39869164 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
9 | 0.807 | 0.240 | 11 | 65571690 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.080 | 11 | 65570617 | missense variant | C/A;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.080 | 6 | 30044563 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.200 | 6 | 30037466 | intron variant | A/G | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.851 | 0.120 | 6 | 30060575 | non coding transcript exon variant | G/A | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.882 | 0.120 | 17 | 49334880 | intron variant | C/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 17 | 49351211 | intron variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
5 | 0.882 | 0.040 | 8 | 105437494 | intron variant | -/TTTTCT | delins | 0.43 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
16 | 0.851 | 0.120 | 16 | 72963084 | intron variant | C/T | snv | 0.94 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 10 | 31520321 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.732 | 0.200 | 22 | 21630090 | upstream gene variant | G/A | snv | 0.32 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.925 | 0.040 | 11 | 102114201 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.724 | 0.320 | 22 | 41620695 | intron variant | C/A;G | snv | 0.020 | 1.000 | 2 | 2013 | 2015 | |||||
|
14 | 0.752 | 0.320 | 22 | 41621260 | 5 prime UTR variant | A/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
14 | 0.752 | 0.320 | 22 | 41619761 | intron variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.742 | 0.240 | 5 | 83076927 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
18 | 0.708 | 0.240 | 5 | 83142293 | intron variant | GATGAGGAAACTAACTCTCAGTGGTGTTTA/- | delins | 0.48 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.030 | 0.667 | 3 | 2004 | 2014 | ||||
|
3 | 1.000 | 0.120 | 19 | 43577449 | intron variant | G/C | snv | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.100 | 0.813 | 16 | 2003 | 2018 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.100 | 0.917 | 12 | 2002 | 2019 |