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 | 1.000 | 0.160 | 3 | 41724463 | intron variant | A/G | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 3 | 41880318 | intron variant | C/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 1.000 | 0.160 | 3 | 41948630 | intron variant | G/A | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.160 | 3 | 41922636 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.160 | 3 | 41872124 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.925 | 0.160 | 3 | 41871159 | intron variant | G/A;T | snv | 0.700 | 1.000 | 3 | 2009 | 2017 | |||||
|
1 | 3 | 41841413 | intron variant | G/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.160 | 3 | 41946428 | intron variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2013 | 2019 | |||||
|
2 | 1.000 | 0.160 | 3 | 41954644 | missense variant | T/C | snv | 0.79 | 0.67 | 0.700 | 1.000 | 2 | 2016 | 2016 | |||
|
1 | 3 | 41827229 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.160 | 3 | 41873406 | intron variant | T/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.160 | 3 | 41835922 | missense variant | T/C | snv | 0.17 | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 1.000 | 0.160 | 3 | 41929251 | intron variant | T/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2018 | 2018 |