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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.742 | 0.240 | 1 | 53909897 | intron variant | C/A;T | snv | 0.53; 4.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 9 | 4223660 | intron variant | T/C;G | snv | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 124253161 | upstream gene variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 6 | 19381155 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 11 | 47715949 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 17 | 16146312 | intron variant | A/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 9 | 136205289 | upstream gene variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 18 | 31726774 | non coding transcript exon variant | C/T | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 14 | 101532106 | intergenic variant | G/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 4 | 170132368 | intergenic variant | G/A | snv | 6.8E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 8 | 46506475 | intergenic variant | T/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 11 | 63400543 | intron variant | A/G | snv | 5.7E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 155214802 | intron variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 63581459 | intron variant | C/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 212418466 | intron variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 15 | 42692090 | synonymous variant | A/G | snv | 2.9E-02 | 6.0E-02 | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 0.080 | 6 | 100173055 | upstream gene variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 22 | 50257071 | non coding transcript exon variant | G/A;C | snv | 2.0E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
22 | 0.695 | 0.400 | 14 | 80203237 | missense variant | T/C | snv | 0.41 | 0.39 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.080 | 2 | 134875411 | intron variant | C/T | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 18 | 60247411 | intergenic variant | A/G | snv | 2.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 17 | 6438550 | upstream gene variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 20 | 1182052 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 16 | 55570216 | intron variant | A/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2013 | 2013 |