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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
27 | 0.695 | 0.120 | 12 | 2236129 | intron variant | G/A | snv | 0.36 | 0.900 | 0.964 | 28 | 2008 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 2310730 | intron variant | A/T | snv | 0.82 | 0.810 | 1.000 | 4 | 2011 | 2017 | ||||
|
3 | 0.882 | 0.040 | 12 | 2277933 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.040 | 12 | 2311360 | intron variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 2222406 | non coding transcript exon variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 12 | 2311211 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 12 | 2551994 | intron variant | C/T | snv | 0.61 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 12 | 2679713 | synonymous variant | G/A | snv | 0.68 | 0.57 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.040 | 12 | 2259508 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 12 | 2206827 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.040 | 12 | 2240418 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.040 | 12 | 2246640 | intron variant | C/T | snv | 0.29 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 12 | 2185990 | intron variant | C/T | snv | 1.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 |