| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
16 | 85977731 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv |
|
0.810 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.790 | 0.360 | 11 | 61008737 | missense variant | C/G;T | snv | 4.2E-06; 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.925 | 0.040 | 5 | 40410482 | upstream gene variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.807 | 0.200 | 17 | 42375526 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
8 | 129611859 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
4 | 73991991 | upstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.827 | 0.120 | 20 | 59249254 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 17 | 34266955 | upstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 7961913 | 5 prime UTR variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.677 | 0.320 | 11 | 61796827 | 3 prime UTR variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.716 | 0.400 | 9 | 114790969 | missense variant | T/A;C | snv | 0.76 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 3 | 18725912 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 10 | 99524480 | upstream gene variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.925 | 0.040 | 1 | 160887174 | upstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
5 | 130681594 | intron variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 16 | 50722863 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.040 | 20 | 63717555 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 10 | 80494291 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.882 | 0.080 | 21 | 44195858 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
10 | 92677094 | intergenic variant | T/A;C;G | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 |