| 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 | 8 | 127513023 | regulatory region variant | C/A | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 8 | 127113259 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2008 | 2012 | ||||||||
|
0.882 | 0.120 | 8 | 127410882 | intron variant | A/G | snv | 0.52 |
|
0.720 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.925 | 0.080 | 12 | 52880120 | regulatory region variant | G/A | snv | 0.12 |
|
0.710 | 1.000 | 2 | 2008 | 2011 | ||||||||
|
1.000 | 0.080 | 8 | 127522409 | intergenic variant | G/A | snv | 0.94 |
|
0.700 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 19 | 50860142 | 3 prime UTR variant | C/T | snv | 0.75 | 0.74 |
|
0.720 | 1.000 | 1 | 2008 | 2018 | |||||||
|
0.925 | 0.080 | 8 | 127400902 | non coding transcript exon variant | C/T | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 11 | 69240647 | regulatory region variant | A/G | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 8 | 126912414 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 11 | 69243184 | intergenic variant | T/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.807 | 0.160 | 8 | 127092098 | non coding transcript exon variant | C/A;T | snv |
|
0.720 | 0.667 | 1 | 2008 | 2012 | |||||||||
|
1.000 | 0.080 | X | 51609183 | intergenic variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 8 | 127460075 | intron variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 20 | 37754119 | intron variant | C/T | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 10 | 46080288 | regulatory region variant | T/C | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 19 | 50832687 | intron variant | T/C | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.790 | 0.240 | 3 | 87061524 | intergenic variant | T/C | snv | 0.76 |
|
0.710 | 0.500 | 1 | 2008 | 2011 | ||||||||
|
0.925 | 0.080 | 19 | 50845834 | intron variant | G/A | snv | 0.82 |
|
0.710 | 1.000 | 1 | 2008 | 2012 | ||||||||
|
1.000 | 0.080 | 19 | 50848678 | intron variant | T/C | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.827 | 0.160 | 19 | 50861367 | upstream gene variant | A/C;G | snv |
|
0.800 | 0.923 | 1 | 2008 | 2019 | |||||||||
|
0.925 | 0.160 | 17 | 37730894 | non coding transcript exon variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 37746322 | upstream gene variant | G/A;T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2018 | |||||||||
|
1.000 | 0.080 | X | 51644318 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.882 | 0.160 | 10 | 125008303 | intron variant | T/C | snv | 0.23 |
|
0.720 | 1.000 | 1 | 2008 | 2016 | ||||||||
|
0.882 | 0.160 | X | 51498820 | non coding transcript exon variant | C/T | snv |
|
0.720 | 1.000 | 1 | 2008 | 2009 |