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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.240 | 7 | 95326216 | upstream gene variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
8 | 0.827 | 0.200 | 22 | 43932850 | intron variant | G/A | snv | 0.24 | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||
|
10 | 0.790 | 0.160 | 22 | 43937814 | intron variant | T/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.925 | 0.120 | 12 | 112136812 | intron variant | C/T | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.925 | 0.120 | 22 | 43928850 | synonymous variant | C/T | snv | 0.28 | 0.22 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.080 | 7 | 21480514 | intron variant | G/A | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.080 | 6 | 61987841 | intron variant | A/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2008 | 2008 | ||||
|
6 | 1.000 | 0.080 | 6 | 135098493 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.040 | 11 | 3147308 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 9 | 9797383 | intron variant | A/G | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 98367794 | regulatory region variant | G/A | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 2 | 31440248 | regulatory region variant | G/A | snv | 7.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 10 | 99397681 | stop gained | G/A;C | snv | 4.0E-06; 5.2E-03 | 0.700 | 1.000 | 2 | 2013 | 2019 | ||||||
|
3 | 4 | 87254878 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 232639279 | intron variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 2 | 134842306 | intron variant | T/C | snv | 6.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 10 | 99372525 | intron variant | A/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 17933413 | intergenic variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 12 | 109631385 | intergenic variant | G/T | snv | 1.2E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 95305887 | intron variant | A/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 33108491 | upstream gene variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 6 | 32223562 | intron variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 9 | 2809077 | intron variant | C/T | snv | 1.6E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 |