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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||
|
3 | 0.925 | 0.080 | 12 | 114656455 | downstream gene variant | A/G | snv | 0.37 | 0.800 | 1.000 | 2 | 2010 | 2017 | ||||
|
3 | 1.000 | 0.040 | 19 | 31614073 | regulatory region variant | T/C | snv | 0.35 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||
|
1 | 4 | 156613097 | intergenic variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 121425789 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 10 | 121274035 | intergenic variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 10 | 121289750 | regulatory region variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.040 | 10 | 121285698 | regulatory region variant | T/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 10 | 22292652 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 19 | 50868163 | intron variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 19 | 50870023 | intron variant | T/C | snv | 0.61 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 8 | 23609471 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 0.925 | 0.080 | 10 | 46052478 | upstream gene variant | A/G | snv | 0.43 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 4 | 145953075 | intergenic variant | -/T;TT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 9 | 117970471 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | X | 24041058 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 16 | 79821935 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 1 | 205787356 | downstream gene variant | C/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 6 | 43742611 | upstream gene variant | T/C | snv | 0.86 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 14 | 94631219 | upstream gene variant | A/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 205756218 | intergenic variant | C/T | snv | 0.86 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 16 | 4299110 | TF binding site variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 10 | 27805490 | intron variant | C/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 12 | 14389607 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 12 | 14439909 | intron variant | A/G | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 |