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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.672 | 0.320 | 8 | 142680513 | 5 prime UTR variant | C/T | snv | 0.46 | 0.45 | 0.720 | 1.000 | 3 | 2013 | 2019 | |||
|
2 | 0.925 | 0.040 | 8 | 142675619 | intron variant | T/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 6 | 41749967 | intron variant | G/A;C | snv | 0.040 | 1.000 | 4 | 2013 | 2016 | |||||
|
5 | 0.882 | 0.080 | 9 | 94175398 | intron variant | G/A;C | snv | 0.020 | 1.000 | 2 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 5 | 60943616 | intron variant | G/A | snv | 0.63 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
3 | 0.882 | 0.080 | 5 | 60949318 | intron variant | A/G | snv | 0.15 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
4 | 0.851 | 0.120 | 10 | 49542929 | upstream gene variant | A/C | snv | 0.25 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
4 | 0.851 | 0.120 | 12 | 112452972 | intron variant | A/G | snv | 0.21 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||
|
6 | 0.882 | 0.080 | 6 | 41751177 | intron variant | G/C | snv | 0.19 | 0.020 | 1.000 | 2 | 2014 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 87227912 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 10 | 94735727 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.040 | 12 | 16293334 | intergenic variant | T/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
7 | 0.790 | 0.320 | 9 | 117702392 | upstream gene variant | G/A | snv | 3.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
13 | 0.742 | 0.480 | 14 | 104773557 | synonymous variant | C/T | snv | 0.30 | 0.23 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.827 | 0.240 | 9 | 117709275 | intron variant | C/A | snv | 9.5E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 17 | 31574981 | intron variant | G/C | snv | 0.66 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.200 | 21 | 44289773 | stop gained | C/A;T | snv | 7.5E-04 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
6 | 0.807 | 0.240 | 12 | 112485589 | intron variant | G/A | snv | 1.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 112471536 | intron variant | T/C | snv | 8.7E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 132679827 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.120 | X | 53557457 | intron variant | G/A | snv | 9.0E-02 | 4.2E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 40359357 | non coding transcript exon variant | C/T | snv | 0.42 | 0.010 | 1.000 | 1 | 2017 | 2017 |