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 | 1.000 | 0.200 | 2 | 191090464 | intron variant | ATAATA/-;ATA;ATAATAATA | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.200 | 12 | 9001336 | intron variant | G/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.200 | 6 | 32691868 | regulatory region variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.200 | 6 | 78774669 | intergenic variant | C/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 13 | 81587764 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.200 | 7 | 129041008 | intron variant | C/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 14 | 45937713 | intron variant | C/T | snv | 4.6E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.200 | 3 | 160001345 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.200 | 5 | 151055333 | intron variant | G/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 11 | 118867572 | intergenic variant | G/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.807 | 0.200 | 14 | 55008684 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.200 | 13 | 47376590 | intergenic variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.200 | 6 | 32622724 | TF binding site variant | A/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.925 | 0.200 | 6 | 32623176 | TF binding site variant | T/C | snv | 0.43 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.200 | 16 | 12908502 | missense variant | T/A;C | snv | 0.88 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.827 | 0.240 | 1 | 67222666 | intron variant | T/C | snv | 0.48 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.827 | 0.240 | 1 | 67209833 | intron variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.851 | 0.240 | 6 | 32440720 | intron variant | A/G | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.240 | 5 | 173852839 | intergenic variant | C/T | snv | 0.59 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.280 | 8 | 11494976 | intron variant | A/G | snv | 0.35 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.280 | 7 | 128936032 | upstream gene variant | T/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.280 | 7 | 128939612 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.807 | 0.280 | 6 | 33104395 | intron variant | T/G | snv | 3.1E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 |