| 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 | 19 | 1312729 | intergenic variant | G/A | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 1 | 67238424 | intron variant | G/A | snv | 0.43 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 159231004 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 19 | 10467167 | missense variant | C/A;T | snv | 0.17; 4.8E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.040 | 20 | 49939692 | intron variant | C/T | snv | 0.34 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.925 | 0.040 | 6 | 31116658 | synonymous variant | G/A | snv | 0.37 | 0.41 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 1 | 67239891 | intron variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 1 | 69322799 | intergenic variant | T/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 152565478 | downstream gene variant | G/A | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 12483941 | intergenic variant | A/C | snv | 9.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 9 | 108054739 | regulatory region variant | A/G | snv | 0.44 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 10444608 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 12 | 122183779 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 8208035 | intron variant | G/A | snv | 0.26 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 5 | 159260273 | upstream gene variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 5 | 40370622 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 17 | 4641943 | intron variant | G/A | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 136501661 | intron variant | T/A | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 56350492 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.040 | 10 | 79256139 | intron variant | C/T | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 6 | 137022583 | intron variant | T/C | snv | 0.61 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 6 | 137027888 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 11 | 65825973 | intron variant | A/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 31367764 | intron variant | T/A | snv | 3.0E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 3 | 191162345 | intergenic variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2015 | 2015 |