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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 5 | 61504509 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 61527343 | intron variant | G/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 28121953 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
2 | 1 | 71335356 | intron variant | A/C | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 20 | 49250119 | intron variant | G/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 1.000 | 0.040 | 19 | 11738921 | 5 prime UTR variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 2 | 184798577 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 7 | 127376163 | intron variant | T/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 7 | 127365970 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 71312171 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 2 | 2018 | 2018 | ||||||
|
1 | 2 | 71281055 | intron variant | A/C;G | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 71355123 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 71341076 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 71297627 | intron variant | G/A | snv | 0.75 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 71307368 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
1 | 2 | 71306170 | intron variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 71381943 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 2 | 71345787 | intron variant | T/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 2 | 71386784 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 19 | 30245471 | intron variant | A/G | snv | 0.27 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 2 | 179850608 | intron variant | A/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
1 | 10 | 62463624 | intron variant | T/C | snv | 0.30 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||||
|
2 | 1.000 | 0.040 | 10 | 62421587 | intron variant | T/C | snv | 3.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 20 | 45967010 | non coding transcript exon variant | G/A | snv | 0.44 | 0.700 | 1.000 | 2 | 2018 | 2019 | ||||||
|
1 | 16 | 71545764 | intron variant | A/C | snv | 0.71 | 0.700 | 1.000 | 3 | 2018 | 2019 |