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 | 0.925 | 0.080 | 19 | 39244283 | intron variant | A/G | snv | 0.30 | 0.060 | 1.000 | 6 | 2011 | 2015 | ||||
|
2 | 1.000 | 0.080 | 1 | 24155450 | 3 prime UTR variant | G/A | snv | 0.63 | 0.030 | 1.000 | 3 | 2011 | 2014 | ||||
|
3 | 0.925 | 0.080 | 19 | 39253181 | upstream gene variant | G/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 39248515 | missense variant | T/A;G | snv | 0.22 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | X | 12914412 | intron variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 10 | 44371698 | 3 prime UTR variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 42536097 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 36105270 | missense variant | A/G | snv | 0.22 | 0.21 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 8 | 11848075 | missense variant | G/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 36088417 | 3 prime UTR variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 6 | 32949767 | missense variant | C/T | snv | 0.15 | 0.13 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 4 | 153684312 | 5 prime UTR variant | CGGCTGCTCGGCGTTCTCTCAGG/- | delins | 0.17 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 5 | 156998817 | intergenic variant | C/A | snv | 2.9E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 24155984 | 3 prime UTR variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 21440717 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 1 | 143723149 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 11 | 46728826 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.080 | 9 | 19469848 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 9 | 21367798 | missense variant | C/G | snv | 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 3 | 107912675 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 7 | 143267656 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 2 | 55025078 | splice region variant | T/G | snv | 0.11 | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.882 | 0.080 | 6 | 131504454 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.080 | 1 | 11801299 | missense variant | C/A;G;T | snv | 1.2E-05; 1.2E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 9 | 21367884 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 |