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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.763 | 0.360 | 1 | 159204893 | 5 prime UTR variant | T/C | snv | 0.25 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
13 | 10 | 27068541 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
14 | 16 | 249924 | intron variant | A/G | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 6 | 31264212 | downstream gene variant | G/A | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 1 | 212617344 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 17 | 50184820 | 3 prime UTR variant | -/CTTG | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
13 | 9 | 121826025 | intron variant | G/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 12 | 41306962 | intron variant | C/T | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 16 | 243594 | intron variant | C/T | snv | 7.3E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
13 | 20 | 16755400 | intron variant | G/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 2 | 181454574 | upstream gene variant | C/T | snv | 0.56 | 0.700 | 1.000 | 3 | 2011 | 2018 | ||||
|
6 | 0.882 | 0.120 | 3 | 42865620 | missense variant | A/C;T | snv | 0.43; 8.3E-03 | 0.700 | 1.000 | 3 | 2013 | 2018 | ||||
|
3 | 9 | 111150273 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
2 | 13 | 40428504 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||||
|
6 | 0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2018 | |||||
|
9 | 7 | 92779056 | intron variant | C/T | snv | 0.14 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
2 | 1 | 150611627 | intron variant | G/T | snv | 0.16 | 0.700 | 1.000 | 2 | 2016 | 2018 | ||||||
|
2 | 16 | 85923808 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 1.000 | 0.080 | 7 | 50273756 | downstream gene variant | G/A | snv | 0.59 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 9 | 128016459 | intergenic variant | G/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 6 | 31273862 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 4 | 82654059 | intron variant | A/C | snv | 0.18 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 15 | 79975053 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 16 | 85895099 | upstream gene variant | C/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 |