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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 22 | 43930116 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2019 | ||||||
|
3 | 4 | 87254878 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 10 | 112189906 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 2 | 36922355 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.040 | 4 | 76495474 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 3 | 120706484 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 9 | 6665010 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 6 | 33893066 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 8 | 144505033 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.0E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 6669940 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 2 | 169013785 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
5 | 1.000 | 0.040 | 22 | 43945024 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 9 | 27869512 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
37 | 0.708 | 0.320 | 14 | 94378610 | missense variant | C/G;T | snv | 2.8E-05; 1.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
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 | |||||||
|
3 | 1.000 | 0.120 | 5 | 96700607 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 11 | 94180526 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
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 | |||||||
|
3 | 16 | 16636871 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1.000 | 0.120 | 2 | 118661291 | regulatory region variant | A/G | snv | 1.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.120 | 13 | 38041119 | intron variant | A/C | snv | 3.1E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 |