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 | 170403362 | intergenic variant | A/C | snv | 0.71 | 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 | ||||||
|
1 | 2 | 118686653 | regulatory region variant | G/A | snv | 0.57 | 0.700 | 1.000 | 3 | 2018 | 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 | ||||||
|
5 | 1 | 155018913 | intron variant | T/C | snv | 0.24 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
11 | 6 | 43790159 | downstream gene variant | C/A | snv | 0.41 | 0.700 | 1.000 | 3 | 2018 | 2019 | ||||||
|
4 | 1 | 172377408 | intron variant | G/A | snv | 0.46 | 0.800 | 1.000 | 2 | 2010 | 2015 | ||||||
|
1 | 5 | 142698150 | upstream gene variant | A/G | snv | 0.22 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 22 | 35264882 | missense variant | G/C;T | snv | 8.0E-06; 0.58 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 12 | 93698914 | intron variant | C/A;G | snv | 0.700 | 1.000 | 2 | 2018 | 2019 | |||||||
|
1 | 10 | 3539029 | intron variant | A/G | snv | 0.54 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
3 | 1 | 119004219 | upstream gene variant | C/T | snv | 0.53 | 0.700 | 1.000 | 2 | 2018 | 2019 |