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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 2 | 26692756 | 5 prime UTR variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.882 | 0.120 | 4 | 110793263 | upstream gene variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 9 | 26932848 | intron variant | T/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 175677201 | intron variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 50832533 | intron variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 9 | 10550204 | intron variant | C/G | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 6 | 49669314 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.882 | 0.120 | 10 | 69458890 | intron variant | G/C | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 57885133 | intron variant | C/T | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 18 | 24761199 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 1 | 245508389 | intron variant | C/T | snv | 0.85 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 1.000 | 0.080 | 11 | 102899623 | downstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 19 | 10683954 | synonymous variant | G/A;C;T | snv | 4.0E-06; 0.68 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 10 | 103856724 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 0.080 | 20 | 23508073 | intron variant | T/G | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 21170677 | intron variant | C/T | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 7 | 138181624 | intergenic variant | C/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 1 | 159685936 | intergenic variant | G/A;T | snv | 0.35 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 4 | 110755885 | intergenic variant | T/A | snv | 0.66 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | X | 122083259 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 21 | 18909856 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 1 | 50973784 | intron variant | A/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.120 | 20 | 35186731 | intron variant | A/- | delins | 0.40 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 4 | 112810934 | intergenic variant | T/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2018 | 2018 |