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 | 199043349 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 1 | 150623061 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 1.000 | 0.040 | 1 | 64848529 | intron variant | C/A | snv | 7.3E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 1.000 | 0.040 | 1 | 8444361 | intron variant | C/A | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 1 | 23520972 | missense variant | C/A | snv | 0.45 | 0.39 | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 1 | 198697103 | intron variant | A/G | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
2 | 1 | 87286317 | intergenic variant | A/T | snv | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
1 | 1 | 41905116 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 116868761 | intergenic variant | G/A | snv | 0.91 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 26320235 | missense variant | A/G | snv | 0.67 | 0.70 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1 | 24924339 | intron variant | C/T | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 10552101 | intron variant | A/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 173262759 | intergenic variant | C/T | snv | 0.58 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 91576688 | regulatory region variant | T/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 101186966 | upstream gene variant | C/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 155022274 | intron variant | T/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 160443300 | regulatory region variant | C/T | snv | 0.18 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 64743428 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 46409395 | intron variant | G/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 206795610 | intron variant | C/A | snv | 9.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 220885504 | downstream gene variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 1 | 11935119 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 1 | 247438293 | intron variant | T/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 1 | 197845693 | intergenic variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 64957764 | intron variant | G/A | snv | 6.1E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 |