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 | 0.925 | 0.120 | X | 50492002 | intergenic variant | G/A | snv | 0.39 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
4 | 0.851 | 0.240 | 15 | 74746626 | upstream gene variant | G/A | snv | 4.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 15 | 80402288 | intron variant | C/T | snv | 4.2E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | X | 50501281 | intergenic variant | G/A | snv | 0.54 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 67804478 | intergenic variant | C/G | snv | 4.0E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.120 | 16 | 55307223 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.200 | 3 | 30602723 | upstream gene variant | G/A | snv | 0.84 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | X | 50483867 | intergenic variant | G/A | snv | 0.39 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 7 | 17296411 | non coding transcript exon variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 10 | 4995793 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.120 | 10 | 5102173 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
10 | 0.752 | 0.320 | X | 67686030 | missense variant | G/A | snv | 9.4E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 15 | 80424141 | intron variant | G/A | snv | 0.27 | 0.020 | 1.000 | 2 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 15 | 80426396 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 1 | 212619442 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 0.882 | 0.120 | 15 | 74339259 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.851 | 0.200 | 10 | 102832492 | 3 prime UTR variant | A/C | snv | 0.23 | 0.21 | 0.020 | 1.000 | 2 | 2012 | 2019 | |||
|
4 | 0.851 | 0.240 | 15 | 51222402 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
2 | 0.925 | 0.120 | X | 50439186 | intron variant | G/A | snv | 0.46 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | X | 50414986 | intron variant | A/G | snv | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | X | 50436751 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 0.925 | 0.120 | X | 50400967 | intron variant | G/A;C | snv | 0.33 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | X | 50459752 | intron variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.120 | X | 50460404 | intron variant | A/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 |