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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 4 | 100647799 | intron variant | G/A | snv | 0.87 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 20 | 14931037 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 17 | 58522103 | splice acceptor variant | T/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 14 | 92580298 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 48342403 | regulatory region variant | C/T | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 25872956 | intron variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 9 | 14841389 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 46373570 | missense variant | G/A | snv | 4.9E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 8 | 117750197 | intergenic variant | T/C | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 17 | 57885718 | 5 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 3 | 39332411 | missense variant | C/A;G;T | snv | 4.0E-06; 0.21; 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 100649444 | intron variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 5 | 11047569 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 39322933 | 5 prime UTR variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 1 | 161544806 | missense variant | A/G | snv | 7.2E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 16 | 3074919 | intron variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 12 | 94793846 | intergenic variant | T/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 92580988 | intron variant | A/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 155880114 | intergenic variant | C/T | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 92577033 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 5 | 67247451 | regulatory region variant | A/G | snv | 4.5E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 48345739 | intergenic variant | T/C | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 48340996 | intergenic variant | G/A | snv | 1.2E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 3 | 46373909 | missense variant | G/T | snv | 7.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 11 | 5697287 | missense variant | G/A | snv | 0.52 | 0.55 | 0.010 | 1.000 | 1 | 2016 | 2016 |