| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
6 | 126960402 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
6 | 6738519 | intron variant | T/C | snv | 0.65 |
|
0.800 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
6 | 43796814 | intergenic variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 3 | 2013 | 2019 | ||||||||||
|
1.000 | 0.080 | 2 | 164672366 | intron variant | C/T | snv | 0.47 |
|
0.800 | 1.000 | 2 | 2013 | 2019 | ||||||||
|
11 | 132771851 | non coding transcript exon variant | T/G | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 129702676 | intron variant | G/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
16 | 15788110 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 219519878 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
X | 14932409 | intergenic variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
2 | 164683151 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
6 | 7217284 | non coding transcript exon variant | C/T | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 75232542 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
6 | 127188012 | intron variant | G/A | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 101575144 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
15 | 66740813 | non coding transcript exon variant | T/C | snv | 0.78 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
2 | 187250671 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
9 | 93996060 | intergenic variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||||
|
1.000 | 0.080 | 19 | 33402102 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.925 | 0.120 | 5 | 56510924 | downstream gene variant | A/G | snv | 0.69 |
|
0.700 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
14 | 79473650 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2015 | 2019 | ||||||||||
|
3 | 157079820 | upstream gene variant | T/C | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||||
|
3 | 12447843 | intergenic variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 |