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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | X | 34874386 | regulatory region variant | G/A | snv | 0.14 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
1.000 | 0.080 | 22 | 21776836 | intron variant | T/G | snv | 0.54 |
|
0.800 | 1.000 | 1 | 2011 | 2013 | ||||||||
|
0.807 | 0.200 | 22 | 37195278 | intron variant | G/A | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 22 | 30133642 | intron variant | C/A | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 22 | 30185733 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 22 | 49997051 | missense variant | A/G | snv | 0.56 | 0.55 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.827 | 0.200 | 22 | 37155567 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 21 | 15432901 | intron variant | T/C | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 21 | 39093608 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.790 | 0.240 | 21 | 44227538 | 3 prime UTR variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.851 | 0.360 | 21 | 44195678 | intron variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.882 | 0.200 | 21 | 42416281 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.280 | 20 | 46113425 | upstream gene variant | C/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.790 | 0.400 | 20 | 54174979 | upstream gene variant | C/T | snv | 0.47 |
|
0.820 | 1.000 | 1 | 2011 | 2016 | ||||||||
|
0.925 | 0.160 | 20 | 1629905 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.925 | 0.120 | 20 | 63712604 | intron variant | T/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.160 | 20 | 46073481 | intron variant | T/C | snv | 0.79 |
|
0.800 | 1.000 | 1 | 2011 | 2019 | ||||||||
|
0.882 | 0.200 | 20 | 54151852 | downstream gene variant | T/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 20 | 1225242 | upstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2009 | 2011 | |||||||||
|
0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv |
|
0.810 | 1.000 | 1 | 2011 | 2018 | |||||||||
|
0.925 | 0.120 | 20 | 49905793 | synonymous variant | G/A | snv | 0.44 | 0.35 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.925 | 0.120 | 20 | 44436388 | non coding transcript exon variant | A/C | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 20 | 63778360 | intron variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2011 | 2019 | |||||||||
|
0.851 | 0.240 | 20 | 46111557 | TF binding site variant | C/G;T | snv |
|
0.810 | 1.000 | 1 | 2009 | 2013 |