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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.700 | 1.000 | 4 | 2008 | 2010 | |||||||
|
0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 |
|
0.700 | 1.000 | 2 | 2010 | 2019 | |||||||
|
4 | 28061344 | intergenic variant | C/G | snv | 0.78 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 140051110 | intron variant | C/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 188094248 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
9 | 116202676 | intron variant | G/C | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
5 | 108816727 | intron variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 44931952 | intron variant | G/A | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
14 | 25458973 | intergenic variant | C/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
2 | 50521617 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
10 | 13507462 | intron variant | G/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 59078490 | intron variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1.000 | 0.080 | 2 | 24927427 | intergenic variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.080 | 2 | 164656581 | intron variant | T/C | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 35474678 | intergenic variant | A/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 7 | 22242733 | intron variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
7 | 25818994 | intergenic variant | C/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 122315414 | upstream gene variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
7 | 92624658 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 133905093 | intron variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
19 | 40911822 | non coding transcript exon variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 173223484 | downstream gene variant | A/G | snv | 4.3E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
4 | 27488957 | intergenic variant | G/A | snv | 0.68 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 61717684 | intron variant | C/T | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |