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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.160 | 2 | 214807822 | intron variant | G/A;C;T | snv | 0.830 | 1.000 | 4 | 2009 | 2019 | |||||
|
4 | 0.851 | 0.080 | 2 | 214771070 | intron variant | T/C | snv | 0.16 | 0.820 | 1.000 | 4 | 2009 | 2019 | ||||
|
3 | 0.882 | 0.080 | 2 | 214778776 | intron variant | C/T | snv | 0.16 | 0.810 | 1.000 | 3 | 2009 | 2019 | ||||
|
1 | 1.000 | 0.040 | 2 | 214789163 | intron variant | T/A;C | snv | 0.800 | 1.000 | 2 | 2009 | 2012 | |||||
|
1 | 1.000 | 0.040 | 2 | 214762673 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 214754055 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 214730921 | non coding transcript exon variant | C/T | snv | 0.30 | 0.26 | 0.700 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.040 | 2 | 214751984 | intron variant | C/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 214802180 | intron variant | T/C | snv | 0.27 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 214808716 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.040 | 2 | 214769903 | 3 prime UTR variant | C/T | snv | 0.44 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 214764598 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 2 | 214735533 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 2 | 214809617 | 5 prime UTR variant | A/G | snv | 0.73 | 0.74 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
5 | 0.827 | 0.120 | 2 | 214809500 | missense variant | G/A | snv | 0.38 | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.080 | 2 | 214730440 | missense variant | G/A;T | snv | 8.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 2 | 214780411 | intron variant | A/G | snv | 0.74 | 0.010 | 1.000 | 1 | 2019 | 2019 |