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 | 0.120 | 17 | 49014714 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 6 | 32813137 | 3 prime UTR variant | G/A | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 10 | 103118697 | intron variant | G/A | snv | 0.15 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 6 | 33010635 | upstream gene variant | A/G | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 13 | 28034140 | inframe deletion | TCA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 9 | 5078395 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 13 | 48045720 | missense variant | G/A | snv | 2.6E-03 | 2.2E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.120 | 6 | 32813344 | intron variant | G/C | snv | 9.8E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.160 | 18 | 673086 | 3 prime UTR variant | A/G;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | 5 | 80655314 | non coding transcript exon variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 5 | 80655677 | intron variant | G/T | snv | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 9 | 81132456 | regulatory region variant | A/T | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | 3 | 86720838 | intergenic variant | A/G | snv | 6.6E-03 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 10 | 61964631 | intron variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 5 | 132429514 | intron variant | T/C | snv | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 7 | 50394939 | intron variant | T/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 2 | 176151875 | missense variant | A/C;T | snv | 5.2E-06; 7.9E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.120 | 21 | 45514947 | 3 prime UTR variant | A/C | snv | 0.43 | 0.44 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.120 | 4 | 141732548 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.120 | 11 | 2751648 | intron variant | C/G;T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.120 | 11 | 108284370 | frameshift variant | -/T | delins | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 5 | 143400121 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.120 | 1 | 66628488 | mature miRNA variant | G/A | snv | 0.17 | 0.24 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.120 | 14 | 23119433 | 5 prime UTR variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 11 | 65444508 | non coding transcript exon variant | G/A | snv | 0.16 | 0.17 | 0.010 | 1.000 | 1 | 2014 | 2014 |