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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 187995930 | downstream gene variant | T/A | snv | 0.27 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
2 | 113221363 | intron variant | C/G | snv | 0.35 |
|
0.800 | 1.000 | 2 | 2012 | 2019 | ||||||||||
|
12 | 75877403 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
15 | 60897812 | intron variant | T/C | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
17 | 37687414 | intron variant | G/A | snv | 0.32 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
13 | 98786364 | intergenic variant | A/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
7 | 1234209 | intron variant | A/T | snv | 0.60 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 30747131 | intergenic variant | C/T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 121231348 | intron variant | C/A | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 46928746 | intron variant | C/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 82478888 | intron variant | G/A | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 41955239 | intron variant | G/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 88977050 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 47385041 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
2 | 27800417 | intron variant | C/T | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 54383167 | intron variant | A/G | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 40635818 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 39591500 | intergenic variant | T/C | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
16 | 69593344 | intron variant | A/T | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 50509555 | intron variant | T/A | snv | 1.3E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 51025037 | intergenic variant | G/A | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 69410998 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 12056269 | intron variant | G/A | snv | 6.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 66756404 | intergenic variant | T/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
5 | 34504563 | intergenic variant | C/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |