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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.851 | 0.240 | 7 | 103764368 | intron variant | G/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
52 | 0.597 | 0.680 | 2 | 112832813 | synonymous variant | G/A | snv | 0.19 | 0.19 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
14 | 0.732 | 0.480 | 12 | 112919388 | splice acceptor variant | G/A;C | snv | 0.67 | 0.020 | 1.000 | 2 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.280 | 8 | 11494976 | intron variant | A/G | snv | 0.35 | 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 | ||||
|
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 | ||||
|
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 | 16 | 12908502 | missense variant | T/A;C | snv | 0.88 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.925 | 0.280 | 6 | 137638098 | intergenic variant | T/C | snv | 0.16 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.020 | 1.000 | 2 | 2011 | 2018 | ||||
|
1 | 1.000 | 0.200 | 5 | 151055333 | intron variant | G/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.724 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.200 | 3 | 160001345 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv | 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 | ||||
|
8 | 0.776 | 0.400 | 2 | 191071078 | intron variant | C/T | snv | 0.19 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
12 | 0.732 | 0.480 | 2 | 191079016 | intron variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.200 | 2 | 191090464 | intron variant | ATAATA/-;ATA;ATAATAATA | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
59 | 0.574 | 0.720 | 2 | 191099907 | intron variant | T/G | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.240 | 6 | 32440720 | intron variant | A/G | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | 6 | 32691868 | regulatory region variant | A/G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 |