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 | 9 | 4774015 | upstream gene variant | C/T | snv | 0.61 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 3 | 39013826 | intron variant | C/T | snv | 0.29 | 0.800 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 13 | 74422500 | intron variant | AAA/-;A;AA;AAAA;AAAAA;AAAAAA;AAAAAAA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 1.000 | 0.120 | 15 | 101334918 | intron variant | A/T | snv | 0.80 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 18 | 61173285 | intergenic variant | T/C;G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 2 | 209381340 | intron variant | C/G | snv | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 209395493 | intergenic variant | GAGAGAGA/-;GA;GAGA;GAGAGA;GAGAGAGAGA;GAGAGAGAGAGA | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 46546423 | intron variant | T/A;C;G | snv | 0.51 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 46779986 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 6 | 30726597 | upstream gene variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 22 | 23070011 | intron variant | G/A | snv | 4.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 15 | 101325267 | intron variant | T/C | snv | 0.71 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | X | 126596847 | intergenic variant | T/C | snv | 2.2E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 31202451 | non coding transcript exon variant | G/C | snv | 0.48 | 0.44 | 0.700 | 1.000 | 1 | 2019 | 2019 |