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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.040 | 1.000 | 4 | 2013 | 2018 | ||||
|
2 | 1.000 | 0.080 | 1 | 24155450 | 3 prime UTR variant | G/A | snv | 0.63 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
22 | 0.724 | 0.240 | 1 | 159205564 | missense variant | G/A | snv | 0.51 | 0.66 | 0.030 | 0.667 | 3 | 2011 | 2019 | |||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.030 | 1.000 | 3 | 2013 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2016 | |||
|
7 | 0.807 | 0.240 | 1 | 11030859 | missense variant | C/A | snv | 0.74 | 0.63 | 0.020 | 1.000 | 2 | 2008 | 2011 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 1 | 24155984 | 3 prime UTR variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 143723149 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.080 | 1 | 11801299 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.882 | 0.240 | 1 | 247436999 | intron variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.790 | 0.280 | 1 | 10325413 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
10 | 0.752 | 0.440 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
23 | 0.689 | 0.560 | 1 | 247425556 | missense variant | C/A | snv | 3.9E-02 | 3.3E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.160 | 1 | 154416720 | intron variant | A/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 25564344 | non coding transcript exon variant | G/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 24185565 | intron variant | C/T | snv | 0.88 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.776 | 0.360 | 1 | 11046609 | missense variant | T/C | snv | 2.1E-02 | 2.2E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 1 | 24184442 | intron variant | T/C | snv | 9.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 1 | 154431930 | intron variant | A/C | snv | 0.60 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
16 | 0.724 | 0.240 | 2 | 168973818 | missense variant | A/C;G;T | snv | 0.57 | 0.030 | 1.000 | 3 | 2011 | 2018 |