| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 100467820 | synonymous variant | A/C;T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 100693079 | intergenic variant | T/G | snv | 0.62 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
14 | 100706205 | regulatory region variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 100710432 | regulatory region variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
14 | 102319464 | 5 prime UTR variant | G/T | snv | 9.6E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 102437842 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 102573750 | regulatory region variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
14 | 102591686 | upstream gene variant | A/G | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 102615129 | intron variant | C/-;CC;CCC;CCCC;CCCCC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1.000 | 0.080 | 14 | 103100448 | missense variant | C/T | snv | 0.22 | 0.20 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
14 | 103106478 | intron variant | A/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 10391742 | upstream gene variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 105112927 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
14 | 105241952 | 5 prime UTR variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
14 | 105291880 | intron variant | A/C | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 105560042 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.925 | 0.080 | 8 | 105569300 | intron variant | A/T | snv | 0.31 |
|
0.800 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
19 | 10576094 | intron variant | TT/-;T;TTT;TTTT;TTTTT | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
19 | 10629898 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 106684166 | intron variant | G/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
7 | 106718770 | intron variant | C/T | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2011 | 2019 | ||||||||||
|
7 | 106727190 | intron variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 106730198 | intron variant | C/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |