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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 5 | 56078195 | intron variant | TT/- | del | 8.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 8 | 65952103 | intergenic variant | G/T | snv | 2.7E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.280 | 1 | 160127638 | frameshift variant | C/- | del | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
4 | 0.851 | 0.280 | 1 | 160135284 | frameshift variant | GT/- | delins | 0.700 | 1.000 | 1 | 2020 | 2020 | |||||
|
2 | 1.000 | 0.040 | 18 | 71429162 | intergenic variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 31149735 | downstream gene variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 8 | 106830066 | intergenic variant | C/G;T | snv | 0.20 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 16 | 50011928 | regulatory region variant | G/A | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 57723211 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 5 | 121518937 | intergenic variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 52971097 | upstream gene variant | G/A | snv | 0.47 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 4 | 46238270 | intergenic variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 13 | 53557781 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 5 | 3276582 | regulatory region variant | G/A | snv | 0.55 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 3 | 134930924 | intron variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 5 | 29054513 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 166142257 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 2 | 166038556 | intron variant | A/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 6 | 103600058 | intergenic variant | -/TGCAATCT | delins | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 104230957 | intergenic variant | G/A | snv | 8.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 9 | 10505224 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 13 | 53576772 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 9 | 118668911 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 8 | 27037027 | intergenic variant | A/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 9 | 21354067 | upstream gene variant | G/A | snv | 4.2E-05 | 0.700 | 1.000 | 1 | 2015 | 2015 |