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 | 1.000 | 0.040 | 1 | 102890921 | intron variant | C/T | snv | 0.14 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
2 | 0.925 | 0.040 | 1 | 219570796 | intergenic variant | C/A | snv | 0.23 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||
|
4 | 0.882 | 0.040 | 1 | 219467338 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2018 | 2018 | |||||
|
2 | 0.925 | 0.040 | 1 | 103084077 | intron variant | C/T | snv | 0.49 | 0.020 | 1.000 | 2 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 183937111 | 3 prime UTR variant | C/A;T | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 1 | 150474986 | 3 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
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 | 1 | 102938828 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 1 | 103000497 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.080 | 1 | 102914362 | missense variant | G/A | snv | 0.61 | 0.49 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 1.000 | 0.040 | 1 | 103107371 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.160 | 1 | 40307477 | missense variant | T/A;C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
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 | |||
|
14 | 0.732 | 0.240 | 2 | 182834857 | missense variant | G/A;C;T | snv | 8.0E-05; 8.0E-02; 5.6E-05 | 0.030 | 1.000 | 3 | 2004 | 2009 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||
|
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 | 2 | 191807255 | intron variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 2 | 70490521 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 218879152 | upstream gene variant | G/A | snv | 0.31 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 2 | 70493874 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.280 | 2 | 113129630 | synonymous variant | T/C | snv | 0.26 | 0.21 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.040 | 2 | 33236308 | intron variant | A/G | snv | 0.39 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 47176459 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2008 | 2008 |