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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 1.000 | 1 | 244750932 | intergenic variant | T/C | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 1.000 | 1 | 147037378 | intron variant | T/C | snv | 0.76 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 1 | 164652278 | intron variant | T/G | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 1.000 | 1 | 18240357 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 1 | 42960707 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 1 | 242242264 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 1 | 167426238 | 3 prime UTR variant | AAA/-;A;AA;AAAA;AAAAAAAAA | delins | 4.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 1 | 32362000 | missense variant | G/A;C | snv | 4.6E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 1 | 34749623 | intron variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 1 | 108875057 | intron variant | C/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 1.000 | 1 | 182052148 | downstream gene variant | C/T | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 1 | 19308470 | missense variant | C/G | snv | 2.8E-02 | 8.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 1.000 | 2 | 233688675 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
5 | 1.000 | 2 | 28788221 | intron variant | G/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 1.000 | 2 | 49264671 | intron variant | G/A | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 1.000 | 2 | 226694601 | regulatory region variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 2 | 136609937 | intergenic variant | G/A | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 1.000 | 2 | 233593475 | intergenic variant | T/C | snv | 7.0E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 1.000 | 2 | 1434216 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.925 | 2 | 8037334 | intron variant | G/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.925 | 0.040 | 2 | 233702448 | intron variant | T/G | snv | 0.30 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 1.000 | 2 | 233716976 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
6 | 1.000 | 2 | 233600317 | upstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
8 | 0.925 | 0.120 | 2 | 233758936 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 |