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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.120 | 6 | 138018697 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1 | 76433779 | intron variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
2 | 9 | 114377802 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 3 | 149494481 | intron variant | G/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.120 | 1 | 119714487 | splice region variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 3 | 136207780 | upstream gene variant | G/T | snv | 0.77 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.120 | 3 | 34149739 | intron variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 1 | 238128048 | intergenic variant | C/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.807 | 0.160 | 4 | 87292656 | intergenic variant | A/G | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 11 | 129520077 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
3 | 1.000 | 0.120 | 5 | 96700607 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 21 | 28754160 | regulatory region variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.925 | 0.120 | 22 | 43928850 | synonymous variant | C/T | snv | 0.28 | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
88 | 0.557 | 0.720 | 22 | 43928847 | missense variant | C/G | snv | 0.28 | 0.22 | 0.800 | 1.000 | 3 | 2011 | 2018 | |||
|
3 | 1.000 | 0.120 | 13 | 38041119 | intron variant | A/C | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 11 | 94180526 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 10 | 77920756 | intron variant | C/A | snv | 0.52 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 16 | 77565542 | intergenic variant | T/C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 7 | 55869748 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 19 | 10236408 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 19 | 31643033 | intergenic variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 3 | 355870 | intron variant | A/G | snv | 0.87 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1 | 54151583 | intron variant | A/G | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 13 | 80901307 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 |