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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 0.790 | 0.240 | 19 | 44888997 | 3 prime UTR variant | C/T | snv | 0.13 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 4 | 116012923 | intron variant | C/T | snv | 0.16 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 6 | 31938233 | intron variant | G/A | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
16 | 0.716 | 0.280 | 1 | 196747245 | missense variant | C/T | snv | 1.4E-04 | 1.9E-04 | 0.760 | 1.000 | 7 | 2015 | 2018 | |||
|
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 | |||
|
13 | 0.807 | 0.120 | 9 | 104902020 | intron variant | C/T | snv | 0.28 | 0.740 | 0.600 | 5 | 2011 | 2018 | ||||
|
4 | 0.851 | 0.040 | 22 | 32688525 | intron variant | A/C | snv | 5.8E-02 | 0.730 | 1.000 | 6 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 122429681 | missense variant | A/G | snv | 0.68 | 0.69 | 0.730 | 0.750 | 4 | 2013 | 2018 | |||
|
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 | 10 | 122455905 | intron variant | C/T | snv | 0.23 | 0.720 | 1.000 | 3 | 2011 | 2018 | ||||
|
2 | 0.925 | 0.040 | 1 | 196723340 | intron variant | C/A | snv | 0.65 | 0.720 | 1.000 | 3 | 2012 | 2013 | ||||
|
66 | 0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 | 0.720 | 1.000 | 3 | 2006 | 2018 | |||
|
7 | 0.827 | 0.200 | 1 | 196717788 | intron variant | G/A | snv | 0.23 | 0.720 | 1.000 | 3 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 196912470 | intron variant | G/C;T | snv | 0.710 | 1.000 | 4 | 2010 | 2013 | |||||
|
2 | 0.925 | 0.160 | 1 | 196677131 | non coding transcript exon variant | A/G;T | snv | 0.710 | 1.000 | 4 | 2008 | 2013 | |||||
|
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 | 1 | 197009485 | 3 prime UTR variant | T/G | snv | 0.38 | 0.710 | 1.000 | 3 | 2010 | 2013 | ||||
|
2 | 0.925 | 0.160 | 10 | 122458116 | intron variant | T/G | snv | 0.63 | 0.710 | 1.000 | 3 | 2008 | 2010 | ||||
|
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 | |||||
|
2 | 1.000 | 0.040 | 1 | 196898103 | intron variant | T/C | snv | 0.28 | 0.710 | 1.000 | 3 | 2011 | 2018 | ||||
|
5 | 0.851 | 0.040 | 3 | 99677428 | intron variant | T/C | snv | 9.5E-02 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
4 | 0.851 | 0.040 | 3 | 99461824 | intergenic variant | T/C | snv | 1.5E-02 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
4 | 0.851 | 0.040 | 1 | 196644043 | intergenic variant | T/C | snv | 7.7E-03 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||
|
2 | 0.925 | 0.120 | 1 | 196855643 | intron variant | T/C | snv | 0.23 | 0.710 | 1.000 | 2 | 2013 | 2013 |