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 | 0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
108 | 0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
32 | 0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 6 | 31170330 | synonymous variant | G/A | snv | 0.18 | 0.22 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 6 | 31636814 | missense variant | C/T | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 12 | 67453680 | intron variant | G/A | snv | 0.84 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 107189709 | intron variant | T/C | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 6 | 62460168 | downstream gene variant | A/C | snv | 0.20 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1.000 | 0.040 | 1 | 233984064 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 16 | 3348899 | TF binding site variant | GGGACT/- | delins | 2.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 2 | 178711222 | synonymous variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1 | 6 | 32621223 | regulatory region variant | -/T | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1 | 6 | 32189131 | intron variant | G/A | snv | 0.22 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||||
|
4 | 0.925 | 0.120 | 6 | 32187221 | non coding transcript exon variant | C/T | snv | 0.18 | 0.21 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.120 | 6 | 32186508 | non coding transcript exon variant | A/G | snv | 0.21 | 0.27 | 0.700 | 1.000 | 1 | 2013 | 2013 | |||
|
13 | 0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 14 | 87737048 | intron variant | C/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1.000 | 0.040 | 6 | 32445373 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.040 | 6 | 32445317 | downstream gene variant | A/G | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.160 | 6 | 32445682 | downstream gene variant | G/A | snv | 0.61 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.200 | 6 | 32444069 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
4 | 0.882 | 0.240 | 6 | 32444056 | intron variant | C/A;T | snv | 0.50 | 0.700 | 1.000 | 1 | 2013 | 2013 |