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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 109256056 | regulatory region variant | C/T | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 109360458 | intergenic variant | T/C | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 109645636 | regulatory region variant | G/C | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 110641566 | regulatory region variant | T/C | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 1106544 | intergenic variant | A/G | snv | 0.89 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 110685953 | intron variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
4 | 112674713 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 112696856 | intron variant | T/C | snv | 0.73 | 0.74 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
10 | 113432723 | intergenic variant | A/G | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 114160370 | non coding transcript exon variant | C/G | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 12 | 114230813 | intergenic variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
12 | 114232065 | intergenic variant | C/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
2 | 114574293 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
12 | 114763631 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 3 | 2015 | 2019 | |||||||||||
|
1 | 114879689 | intron variant | T/G | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 115062886 | intergenic variant | T/A | snv | 0.76 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
12 | 115063322 | intergenic variant | G/A | snv | 0.74 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 115518401 | intron variant | C/G | snv | 0.33 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 116599223 | intergenic variant | G/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
9 | 116678958 | intron variant | T/A | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
11 | 116840252 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 116910080 | upstream gene variant | A/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 117018568 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 118319448 | regulatory region variant | TATA/-;TA;TATATA | delins |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
1 | 118368672 | intergenic variant | T/G | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2019 | 2019 |