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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 11 | 116784884 | missense variant | G/A;C | snv | 6.6E-02; 8.0E-06 | 0.800 | 1.000 | 4 | 2009 | 2019 | ||||||
|
1 | 11 | 116861796 | intron variant | G/T | snv | 0.80 | 0.86 | 0.800 | 1.000 | 3 | 2008 | 2019 | |||||
|
1 | 15 | 42391589 | intron variant | G/A | snv | 3.6E-02 | 0.800 | 1.000 | 3 | 2010 | 2018 | ||||||
|
1 | 22 | 38150026 | non coding transcript exon variant | T/A;C | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||||
|
1 | 10 | 63174788 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 12 | 106780868 | intron variant | A/C | snv | 0.23 | 0.700 | 1.000 | 2 | 2017 | 2017 | ||||||
|
1 | 21 | 45455861 | missense variant | G/A | snv | 1.2E-03 | 5.4E-03 | 0.700 | 1.000 | 2 | 2014 | 2018 | |||||
|
1 | 19 | 44907291 | non coding transcript exon variant | A/G | snv | 7.1E-03 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 16 | 30907166 | intron variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1 | 8 | 10826419 | intron variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2013 | |||||||
|
1 | 7 | 72664689 | intron variant | C/T | snv | 1.8E-02 | 0.800 | 1.000 | 2 | 2010 | 2018 | ||||||
|
1 | 19 | 19551411 | downstream gene variant | C/T | snv | 6.3E-02 | 0.800 | 1.000 | 2 | 2009 | 2019 | ||||||
|
1 | 10 | 5212884 | intron variant | A/G | snv | 0.11 | 0.800 | 1.000 | 2 | 2013 | 2017 | ||||||
|
1 | 2 | 65057489 | intron variant | T/C | snv | 0.33 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 3 | 136079816 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 7 | 116717990 | intron variant | A/G;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||||
|
1 | 20 | 57565383 | missense variant | G/A | snv | 1.7E-03 | 2.1E-03 | 0.700 | 1.000 | 2 | 2017 | 2018 | |||||
|
1 | 8 | 18414928 | intergenic variant | C/T | snv | 0.71 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
1 | 15 | 42945216 | 3 prime UTR variant | C/T | snv | 6.1E-02 | 0.700 | 1.000 | 2 | 2015 | 2018 | ||||||
|
1 | 1 | 26539480 | intron variant | T/C | snv | 5.3E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 4 | 163324702 | 3 prime UTR variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 116851110 | intron variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 75502331 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
1 | 9 | 16597467 | intron variant | G/A | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 134407131 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 |