| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 32470765 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 32470871 | intron variant | C/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.508 | 0.800 | 1 | 206773289 | 5 prime UTR variant | A/G | snv | 0.69 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.641 | 0.520 | 10 | 100975021 | mature miRNA variant | C/G | snv | 0.27 | 0.27 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.400 | 6 | 32602623 | intergenic variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.763 | 0.480 | 6 | 32142202 | intergenic variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.776 | 0.480 | 6 | 31883457 | non coding transcript exon variant | A/G | snv | 0.18 | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.790 | 0.400 | 6 | 32601914 | intergenic variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.790 | 0.440 | 6 | 32461866 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.360 | 6 | 31634066 | non coding transcript exon variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.360 | 6 | 31664357 | missense variant | C/A;T | snv | 0.15; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.200 | 6 | 32443869 | missense variant | T/G | snv | 0.64 | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.827 | 0.280 | 6 | 32444703 | 3 prime UTR variant | G/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.851 | 0.240 | 6 | 32443746 | intron variant | T/A;C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.280 | 6 | 32445540 | downstream gene variant | G/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.160 | X | 133303309 | missense variant | G/A | snv | 0.33 | 0.38 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.882 | 0.240 | 6 | 32405455 | splice region variant | G/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.200 | 6 | 32444069 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.882 | 0.240 | 6 | 32444056 | intron variant | C/A;T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.240 | 6 | 32443949 | intron variant | G/A | snv | 0.82 | 0.80 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.882 | 0.160 | 6 | 32460012 | non coding transcript exon variant | T/C | snv | 0.61 | 0.59 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.925 | 0.040 | 6 | 32405535 | non coding transcript exon variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
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 |