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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 4 | 108706869 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 2 | 212050001 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 9 | 2256092 | intergenic variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 1 | 26602511 | upstream gene variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
9 | 0.776 | 0.200 | 9 | 27543283 | non coding transcript exon variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.827 | 0.080 | 9 | 27543384 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.080 | 2 | 176116615 | 5 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 10 | 2747402 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 13 | 53039424 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 8 | 18567221 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.080 | 21 | 31667331 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 21 | 31667307 | missense variant | G/A | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.080 | 21 | 42230666 | intron variant | C/T | snv | 1.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 10 | 92524312 | intron variant | T/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 143629403 | intron variant | A/G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 2 | 193714051 | intergenic variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 4 | 27902934 | intergenic variant | G/A | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 18 | 41607206 | intron variant | T/G | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 12 | 130971904 | intron variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 5 | 11084600 | intron variant | G/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 13 | 85529954 | intron variant | C/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 1 | 76660688 | intergenic variant | C/A | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 17 | 28283226 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 14 | 101008533 | intron variant | C/T | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 |