| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 100359243 | intron variant | C/T | snv | 0.32 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101160327 | intergenic variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
15 | 101183294 | intron variant | C/T | snv | 9.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 101186966 | upstream gene variant | C/T | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 10186296 | intron variant | C/G | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 102352407 | intron variant | -/TA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 102435015 | non coding transcript exon variant | AA/-;A;AAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.040 | 4 | 102527974 | intron variant | A/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
10 | 102578181 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 102840179 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 1049306 | synonymous variant | C/A;G | snv | 0.18; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.677 | 0.440 | 4 | 105140377 | intron variant | C/A | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
8 | 105561297 | intron variant | A/- | delins | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
5 | 10684830 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 107122949 | intergenic variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 1079960 | missense variant | G/A | snv | 5.7E-02 | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1 | 108200437 | 5 prime UTR variant | G/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 108294680 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 108378047 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
8 | 10848901 | downstream gene variant | C/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 109286353 | non coding transcript exon variant | G/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 109298174 | intron variant | A/G | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 109381824 | non coding transcript exon variant | A/G | snv | 4.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.120 | 19 | 1104079 | synonymous variant | G/A;C | snv | 0.22; 1.8E-05 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |