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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.040 | 2 | 47176459 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.160 | 1 | 40307477 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.040 | 4 | 1715043 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.200 | 16 | 53805223 | intron variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.882 | 0.120 | 16 | 53766065 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 21 | 38635298 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.882 | 0.080 | 12 | 47976052 | missense variant | C/T | snv | 7.0E-06 | 0.020 | 1.000 | 2 | 2008 | 2010 | ||||
|
1 | 1.000 | 0.040 | 7 | 129203569 | missense variant | C/T | snv | 4.1E-04 | 3.5E-04 | 0.710 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.040 | 22 | 41238083 | frameshift variant | -/GCCCGCGC | delins | 4.8E-03 | 1.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 22 | 41157913 | intron variant | G/T | snv | 1.2E-02 | 0.710 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 7 | 18370370 | intron variant | A/C | snv | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 19 | 55368304 | missense variant | C/T | snv | 2.1E-02 | 1.8E-02 | 0.710 | 1.000 | 2 | 2018 | 2019 | |||
|
3 | 0.882 | 0.040 | 19 | 41327879 | intron variant | G/A | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 6 | 26123274 | intron variant | T/C | snv | 3.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 2 | 85309292 | missense variant | G/A | snv | 4.2E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 1 | 91714361 | intron variant | C/T | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 11 | 66734153 | upstream gene variant | T/C | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 19 | 41354682 | 3 prime UTR variant | C/T | snv | 6.2E-02 | 5.9E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 58895817 | intron variant | A/G | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 75454873 | intron variant | C/A | snv | 7.3E-02 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
9 | 0.807 | 0.120 | 2 | 182838608 | missense variant | G/A | snv | 8.2E-02 | 8.3E-02 | 0.030 | 1.000 | 3 | 2006 | 2012 | |||
|
1 | 1.000 | 0.040 | 6 | 55772142 | intron variant | A/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 |