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 | 0.750 | 4 | 2015 | 2020 | ||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.030 | 1.000 | 3 | 2005 | 2013 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2019 | 2020 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 11034982 | intron variant | C/A;T | snv | 0.020 | 1.000 | 2 | 2014 | 2015 | |||||
|
2 | 0.925 | 0.080 | 1 | 181051094 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.776 | 0.320 | 1 | 12207208 | 3 prime UTR variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.695 | 0.480 | 1 | 247448734 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 183579857 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 1 | 159029494 | intron variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
13 | 0.732 | 0.360 | 1 | 169707345 | missense variant | A/G | snv | 0.21 | 0.22 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 1 | 207569911 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 1 | 159032767 | intron variant | A/G | snv | 0.70 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 1 | 228515588 | upstream gene variant | A/G | snv | 0.81 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.080 | 1 | 154465420 | 3 prime UTR variant | T/A;C | snv | 0.80 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 11030840 | missense variant | A/G | snv | 5.0E-02 | 5.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.790 | 0.360 | 1 | 206768184 | 3 prime UTR variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 12207235 | 3 prime UTR variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 1 | 207552816 | missense variant | G/T | snv | 1.4E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.040 | 1 | 158255035 | intron variant | C/T | snv | 0.39 | 0.43 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 1 | 11982698 | intron variant | G/A | snv | 0.43 | 0.710 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 242711583 | intergenic variant | T/C | snv | 0.15 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 1 | 47373057 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 209882285 | intergenic variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
31 | 0.653 | 0.600 | 2 | 218395009 | missense variant | G/A;C | snv | 4.9E-02; 4.1E-06 | 0.100 | 1.000 | 13 | 2002 | 2015 |