| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||
|
9 | 133268030 | intron variant | G/A | snv |
|
0.800 | 1.000 | 2 | 2013 | 2017 | |||||||||||
|
1.000 | 0.120 | 9 | 133261703 | intron variant | A/G | snv |
|
0.800 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
0.851 | 0.240 | 9 | 133261662 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||
|
5 | 6324180 | intron variant | A/G | snv | 4.3E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
9 | 133266942 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1.000 | 0.040 | 9 | 133256028 | missense variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
12 | 103756096 | intron variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 3 | 2010 | 2019 | ||||||||||
|
8 | 27946082 | intron variant | C/T | snv | 0.64 |
|
0.700 | 1.000 | 2 | 2016 | 2019 | ||||||||||
|
5 | 177264278 | intron variant | T/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 177151071 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 177249350 | intron variant | T/C | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 177228236 | intron variant | T/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
5 | 177270843 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 6271953 | intron variant | T/C | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 197041345 | intron variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
1 | 197194798 | intron variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
14 | 91824400 | intron variant | A/G | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 177137188 | 3 prime UTR variant | G/A | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
12 | 6044348 | synonymous variant | A/G | snv | 0.31 | 0.40 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
13 | 113098517 | 3 prime UTR variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
12 | 103606541 | intron variant | T/G | snv | 0.71 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 1 | 196388616 | intron variant | A/C;G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.080 | 1 | 196710325 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 197035354 | downstream gene variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 |