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 | 0.280 | 13 | 43883789 | missense variant | A/G | snv | 0.28 | 0.27 | 0.820 | 1.000 | 4 | 2009 | 2018 | |||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.810 | 1.000 | 3 | 2009 | 2016 | ||||
|
2 | 0.925 | 0.040 | 6 | 146597814 | intron variant | G/A | snv | 7.7E-02 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
3 | 0.925 | 0.040 | 1 | 67131436 | intron variant | G/A | snv | 0.83 | 0.810 | 1.000 | 2 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 50820507 | intergenic variant | G/A | snv | 6.2E-02 | 0.800 | 1.000 | 2 | 2011 | 2015 | ||||
|
5 | 0.882 | 0.160 | 8 | 89766285 | intron variant | G/A | snv | 0.60 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
2 | 0.925 | 0.120 | 16 | 50685192 | upstream gene variant | T/C | snv | 0.68 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 89811459 | intergenic variant | A/G | snv | 0.58 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 13 | 43859494 | intron variant | C/A;T | snv | 0.710 | 1.000 | 3 | 2009 | 2016 | |||||
|
1 | 1.000 | 0.040 | 13 | 43904864 | intron variant | A/G | snv | 0.11 | 0.710 | 1.000 | 2 | 2009 | 2016 | ||||
|
4 | 0.851 | 0.080 | 16 | 50691282 | upstream gene variant | C/T | snv | 0.38 | 0.710 | 1.000 | 2 | 2009 | 2012 | ||||
|
1 | 1.000 | 0.040 | 13 | 43823679 | downstream gene variant | T/C | snv | 0.53 | 0.710 | 1.000 | 2 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 8 | 117614040 | intergenic variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 9 | 114785492 | 3 prime UTR variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 19 | 51624491 | intron variant | A/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 115381654 | intron variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 114730737 | intergenic variant | T/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 12 | 40031285 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 146576497 | intergenic variant | A/T | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 35254508 | intergenic variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 89650713 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 67132294 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 1 | 212700089 | upstream gene variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 16 | 50680424 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 31297135 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 |