| 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 | 5 | 102391066 | non coding transcript exon variant | T/C | snv | 0.24 | 0.21 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 9 | 73166330 | intron variant | T/C | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 8 | 114496877 | intergenic variant | G/T | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 46941670 | intron variant | C/T | snv | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 11043805 | intron variant | A/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 9 | 27126454 | intron variant | T/C | snv | 3.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 85876294 | intergenic variant | T/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.200 | 10 | 122489463 | missense variant | C/G | snv | 0.700 | 1.000 | 6 | 2009 | 2016 | |||||
|
2 | 1.000 | 0.040 | 11 | 27736075 | intron variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 19 | 44899959 | intron variant | C/G;T | snv | 2.9E-02 | 0.710 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 16 | 88972472 | intron variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 21 | 41460614 | downstream gene variant | C/T | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 15 | 51215677 | intron variant | G/A | snv | 0.11 | 8.6E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
2 | 1.000 | 0.040 | 19 | 10168778 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 13 | 33019132 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 21 | 41420558 | 5 prime UTR variant | C/G | snv | 0.35 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 21 | 41436789 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 1 | 45332421 | missense variant | G/C;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 20 | 63350819 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 6 | 41168112 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 13 | 33035800 | intron variant | A/G | snv | 5.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.160 | X | 153725917 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.040 | 11 | 27673917 | intron variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 6 | 34182850 | intergenic variant | T/C | snv | 0.99 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 6 | 151808263 | synonymous variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 |