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 | 1.000 | 10 | 89981680 | intron variant | G/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 10 | 6061799 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 1.000 | 13 | 106686453 | intron variant | C/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.080 | 7 | 30609729 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 1.000 | 2 | 1434216 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 12 | 70560684 | synonymous variant | C/T | snv | 1.4E-02 | 3.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 0.160 | 10 | 95038791 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 1.000 | 7 | 18464885 | intron variant | G/A | snv | 0.96 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 10 | 44368720 | downstream gene variant | C/T | snv | 3.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
14 | 0.776 | 0.360 | 12 | 121902569 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 20 | 945754 | intergenic variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.040 | 2 | 73909130 | missense variant | C/A;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 1.000 | X | 144281548 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 1.000 | 18 | 8931654 | intergenic variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 1 | 182052148 | downstream gene variant | C/T | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 2 | 161172602 | intron variant | T/G | snv | 0.11 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 13 | 93226778 | non coding transcript exon variant | A/G | snv | 3.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 2 | 194682669 | intergenic variant | G/A | snv | 0.94 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 2 | 194695273 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
5 | 1.000 | 6 | 221146 | intergenic variant | G/A | snv | 2.6E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 2 | 49270867 | intron variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 1.000 | 3 | 66395177 | intron variant | A/G | snv | 5.2E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
7 | 0.851 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 | 0.720 | 1.000 | 2 | 2015 | 2016 | ||||
|
11 | 0.776 | 0.160 | 10 | 119672373 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 1.000 | 0.120 | 11 | 92245852 | intergenic variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2015 | 2015 |