| 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 | 12 | 26539294 | intron variant | T/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 12 | 26537632 | intron variant | A/C;T | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 12 | 26449331 | intron variant | G/A | snv | 2.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 26539754 | intron variant | G/A | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 26540242 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 1 | 62787158 | intron variant | G/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 11 | 102808321 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 1 | 62847648 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 126102615 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.040 | 12 | 26538266 | intron variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 3 | 186748463 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 26575582 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 26541007 | intron variant | A/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 62801139 | intron variant | G/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 26539038 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 11 | 102794539 | intron variant | T/C | snv | 0.77 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 62787095 | intron variant | C/T | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.040 | 9 | 92461698 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 100780477 | intron variant | C/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 6 | 47554621 | intron variant | G/A;C | snv | 0.61 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 12 | 26538618 | intron variant | C/T | snv | 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 3 | 100780521 | intron variant | G/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 6 | 32696555 | intergenic variant | T/C | snv | 0.39 | 0.030 | 0.667 | 3 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.120 | 6 | 32695614 | intergenic variant | A/G | snv | 0.53 | 0.030 | 1.000 | 3 | 2011 | 2016 | ||||
|
1 | 1.000 | 0.040 | 14 | 80100388 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 |