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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.040 | 4 | 109737911 | intron variant | T/C | snv | 0.54 | 0.840 | 0.875 | 8 | 2010 | 2019 | ||||
|
3 | 0.925 | 0.040 | 15 | 58395681 | intron variant | T/C | snv | 0.50 | 0.860 | 1.000 | 7 | 2010 | 2019 | ||||
|
6 | 0.807 | 0.040 | 4 | 109764664 | missense variant | C/T | snv | 4.2E-04 | 3.9E-04 | 0.750 | 1.000 | 6 | 2013 | 2019 | |||
|
3 | 0.882 | 0.040 | 10 | 122459759 | non coding transcript exon variant | C/G | snv | 0.23 | 0.840 | 0.833 | 6 | 2010 | 2013 | ||||
|
6 | 0.807 | 0.040 | 6 | 43858890 | TF binding site variant | C/T | snv | 0.61 | 0.840 | 1.000 | 6 | 2013 | 2019 | ||||
|
4 | 0.851 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 5.8E-02 | 0.730 | 1.000 | 6 | 2010 | 2019 | ||||
|
3 | 0.925 | 0.040 | 1 | 186178506 | missense variant | A/G | snv | 7.3E-04 | 6.8E-04 | 0.050 | 1.000 | 5 | 2004 | 2007 | |||
|
1 | 1.000 | 0.040 | 10 | 122429681 | missense variant | A/G | snv | 0.68 | 0.69 | 0.730 | 0.750 | 4 | 2013 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 196691131 | intron variant | A/G | snv | 0.64 | 0.800 | 1.000 | 4 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 31933767 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.040 | 1.000 | 4 | 2006 | 2010 | |||
|
1 | 1.000 | 0.040 | 1 | 196912470 | intron variant | G/C;T | snv | 0.710 | 1.000 | 4 | 2010 | 2013 | |||||
|
5 | 0.882 | 0.040 | 1 | 196651787 | upstream gene variant | C/T | snv | 0.22 | 0.040 | 1.000 | 4 | 2006 | 2019 | ||||
|
3 | 0.882 | 0.040 | 6 | 43860845 | intergenic variant | T/C | snv | 0.37 | 0.830 | 1.000 | 4 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 196972363 | downstream gene variant | T/C | snv | 0.62 | 0.710 | 1.000 | 4 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 14 | 68318360 | intron variant | G/A | snv | 0.54 | 0.830 | 1.000 | 4 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 196707805 | intron variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2013 | 2018 | |||||
|
1 | 1.000 | 0.040 | 1 | 197009485 | 3 prime UTR variant | T/G | snv | 0.38 | 0.710 | 1.000 | 3 | 2010 | 2013 | ||||
|
6 | 0.827 | 0.040 | 19 | 6718135 | missense variant | T/G | snv | 2.8E-03 | 2.4E-03 | 0.720 | 1.000 | 3 | 2014 | 2018 | |||
|
4 | 0.882 | 0.040 | 4 | 56920284 | intron variant | G/T | snv | 0.92 | 0.820 | 0.667 | 3 | 2011 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 93998061 | missense variant | C/T | snv | 1.1E-02 | 1.0E-02 | 0.030 | 0.667 | 3 | 2000 | 2015 | |||
|
3 | 0.882 | 0.040 | 6 | 116065971 | intergenic variant | C/A;G;T | snv | 0.820 | 0.667 | 3 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 0.700 | 1.000 | 3 | 2010 | 2011 | |||||
|
1 | 1.000 | 0.040 | 1 | 196705584 | intron variant | T/A | snv | 0.24 | 0.700 | 1.000 | 3 | 2010 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196715495 | intron variant | G/T | snv | 0.65 | 0.710 | 1.000 | 3 | 2010 | 2015 | ||||
|
1 | 1.000 | 0.040 | 10 | 122475839 | intron variant | G/C;T | snv | 0.710 | 1.000 | 3 | 2010 | 2013 |