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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 13 | 40269668 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 16 | 51447685 | intron variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 3 | 27485025 | upstream gene variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 5 | 176897728 | intron variant | G/C | snv | 0.58 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 6 | 152245912 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 9 | 804231 | regulatory region variant | C/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 186604 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.040 | 6 | 152232879 | intron variant | C/G | snv | 0.12 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.040 | 5 | 1283640 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 17 | 7408930 | intron variant | G/A | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 11 | 108488962 | intron variant | C/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 22 | 40414942 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 9 | 683423 | intron variant | T/C | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
2 | 1.000 | 22 | 37332213 | regulatory region variant | T/C | snv | 0.60 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 1 | 22109953 | regulatory region variant | G/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 4 | 45786110 | intergenic variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 48948860 | regulatory region variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 53021103 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 46136789 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 54199163 | intron variant | C/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 4 | 46002240 | intergenic variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 10 | 103954641 | intergenic variant | C/T | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.851 | 0.040 | 10 | 103916188 | intron variant | T/C | snv | 0.75 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 13 | 39726408 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 13 | 39921324 | intergenic variant | G/T | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 |