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 | 13 | 61317942 | intergenic variant | -/G | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 9 | 135247660 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 11 | 78008566 | intergenic variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 21 | 21308069 | intron variant | TA/-;TATA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 5 | 102301953 | upstream gene variant | -/AAA;AAAAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.120 | 7 | 27853217 | intron variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 1 | 247193430 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.120 | 1 | 119307920 | intron variant | G/A | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 1 | 172072640 | intron variant | C/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 5 | 5169477 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 22 | 39341089 | intergenic variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 17 | 30854202 | intron variant | -/T | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | X | 43022624 | intergenic variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 10 | 1186289 | intron variant | C/- | delins | 9.1E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 16 | 55347327 | intergenic variant | G/A | snv | 1.0E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.120 | 4 | 78088155 | intron variant | C/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.120 | 17 | 43063353 | frameshift variant | -/T | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 17 | 43091910 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 17 | 43092472 | frameshift variant | G/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | 20 | 22393040 | intron variant | T/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 10 | 80608465 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.120 | 11 | 116120763 | intergenic variant | A/G | snv | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 5 | 147579243 | intron variant | C/T | snv | 2.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 10 | 28484549 | intron variant | G/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.120 | 17 | 46742199 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 1 | 2013 | 2013 |