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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.040 | 0.750 | 4 | 2009 | 2017 | |||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.030 | 1.000 | 3 | 2011 | 2018 | ||||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
13 | 0.732 | 0.400 | 1 | 113852067 | missense variant | C/T | snv | 1.7E-02 | 1.6E-02 | 0.020 | 1.000 | 2 | 2009 | 2017 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
9 | 0.790 | 0.360 | 1 | 206771300 | intron variant | T/C | snv | 0.71 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.790 | 0.320 | 1 | 206770888 | 5 prime UTR variant | A/G;T | snv | 0.72 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.827 | 0.360 | 1 | 206771607 | intron variant | T/G | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
11 | 0.742 | 0.520 | 1 | 206771966 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.320 | 1 | 206771818 | intron variant | G/A | snv | 1.5E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 67219760 | intron variant | G/A | snv | 0.43 | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.090 | 1.000 | 9 | 2005 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 118981487 | missense variant | T/C | snv | 8.3E-02 | 0.13 | 0.020 | 1.000 | 2 | 2011 | 2018 | |||
|
4 | 0.851 | 0.280 | 2 | 191153045 | upstream gene variant | T/C | snv | 0.54 | 0.020 | 1.000 | 2 | 2014 | 2018 | ||||
|
7 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 2 | 230170151 | intron variant | T/G | snv | 0.14 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 230173117 | non coding transcript exon variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.080 | 2 | 230177560 | missense variant | A/G | snv | 0.42 | 0.40 | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||
|
9 | 0.790 | 0.240 | 2 | 189565370 | missense variant | C/A | snv | 3.8E-03 | 1.6E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.080 | 2 | 207666398 | intron variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.160 | 2 | 118967804 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 2 | 118975372 | intron variant | G/T | snv | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
12 | 0.763 | 0.280 | 2 | 8812465 | missense variant | G/C | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.080 | 2 | 230182908 | intron variant | G/A | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |