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 | 0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 | 0.800 | 1.000 | 5 | 2010 | 2019 | ||||
|
2 | 1.000 | 0.040 | 6 | 6742916 | upstream gene variant | T/A;C;G | snv | 0.800 | 1.000 | 4 | 2010 | 2019 | |||||
|
6 | 1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
4 | 0.882 | 0.120 | 4 | 55432133 | 3 prime UTR variant | G/A | snv | 0.28 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
4 | 1 | 170403362 | intergenic variant | A/C | snv | 0.71 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
4 | 0.882 | 0.160 | 4 | 971991 | intron variant | G/A | snv | 0.43 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||
|
1 | 14 | 58349121 | intron variant | T/C | snv | 0.68 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 10 | 4921135 | intergenic variant | C/T | snv | 0.11 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
3 | 6 | 6738519 | intron variant | T/C | snv | 0.65 | 0.800 | 1.000 | 3 | 2013 | 2019 | ||||||
|
1 | 2 | 59724330 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 20 | 57560143 | upstream gene variant | C/T | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
6 | 6 | 43796814 | intergenic variant | C/T | snv | 0.40 | 0.700 | 1.000 | 3 | 2013 | 2019 | ||||||
|
1 | 15 | 66740813 | non coding transcript exon variant | T/C | snv | 0.78 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
4 | 12 | 53948900 | downstream gene variant | A/C;T | snv | 0.800 | 1.000 | 3 | 2010 | 2018 | |||||||
|
3 | 2 | 187250671 | intron variant | A/G | snv | 0.51 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
1 | 2 | 48735152 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 4 | 88808923 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
4 | 22 | 29053489 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
1 | 9 | 93996060 | intergenic variant | A/G | snv | 0.31 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||||
|
10 | 1.000 | 0.080 | 16 | 81501185 | intron variant | T/A;C | snv | 0.700 | 1.000 | 3 | 2018 | 2019 | |||||
|
1 | 2 | 118686653 | regulatory region variant | G/A | snv | 0.57 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 19 | 33402102 | intron variant | A/G | snv | 0.45 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
9 | 0.925 | 0.120 | 5 | 56510924 | downstream gene variant | A/G | snv | 0.69 | 0.700 | 1.000 | 3 | 2015 | 2019 | ||||
|
1 | 6 | 127118902 | splice region variant | T/C | snv | 3.3E-02 | 0.700 | 1.000 | 3 | 2017 | 2019 | ||||||
|
1 | 8 | 25784248 | intergenic variant | A/C | snv | 0.38 | 0.700 | 1.000 | 3 | 2018 | 2019 |