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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 6 | 31274397 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 2 | 2011 | 2017 | ||||||
|
1 | 2 | 46547920 | intron variant | T/C | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 4 | 105166665 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 5 | 79981392 | 3 prime UTR variant | A/G | snv | 0.68 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 5 | 94726834 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 8 | 128000328 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 9 | 120922814 | intron variant | T/C | snv | 0.51 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 39932526 | intergenic variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 106666486 | 3 prime UTR variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 19 | 19480257 | intron variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 16366444 | intron variant | G/C | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 19 | 16466180 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.080 | 19 | 16437564 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 19 | 13837498 | non coding transcript exon variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 19 | 49989603 | intron variant | C/G;T | snv | 0.38 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 54441331 | upstream gene variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 12 | 6393666 | upstream gene variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 21 | 41975215 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 1 | 168125471 | intron variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 2 | 65408072 | intron variant | C/A | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 13978399 | intron variant | ACACACAC/-;AC;ACAC;ACACAC;ACACACACAC;ACACACACACAC | delins | 0.78 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 16 | 89295870 | intron variant | ATGTG/- | delins | 0.83 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 6 | 85678170 | non coding transcript exon variant | G/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 7 | 64975111 | 3 prime UTR variant | A/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 19 | 48208219 | 3 prime UTR variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2012 | 2012 |