Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 154318779 | upstream gene variant | G/C | snv | 0.30 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 3 | 20064181 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
14 | 16 | 249924 | intron variant | A/G | snv | 3.0E-02 | 0.700 | 1.000 | 2 | 2019 | 2019 | ||||||
|
2 | 22 | 36362502 | intron variant | A/G | snv | 0.62 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
11 | 0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 14 | 73771327 | intron variant | G/A | snv | 1.6E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
7 | 3 | 24301839 | intron variant | T/C | snv | 0.60 | 0.700 | 1.000 | 2 | 2017 | 2018 | ||||||
|
3 | 20 | 53605567 | intron variant | C/T | snv | 8.1E-03 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
5 | 1 | 3080038 | intron variant | T/C | snv | 0.73 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 11 | 2298783 | intron variant | C/T | snv | 0.15 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
8 | 6 | 25821542 | intron variant | C/T | snv | 6.1E-02 | 0.800 | 1.000 | 2 | 2010 | 2012 | ||||||
|
8 | 10 | 69334748 | intron variant | T/C | snv | 6.4E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
7 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 3 | 71207158 | intron variant | C/T | snv | 0.17 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
10 | 18 | 63253621 | intron variant | C/T | snv | 2.1E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 14 | 69888141 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
3 | 5 | 88895818 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
10 | 4 | 54542832 | intergenic variant | T/C | snv | 0.21 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
7 | 22 | 27785411 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
4 | 1 | 37473572 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 7 | 17774912 | intergenic variant | G/A | snv | 0.58 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
3 | 15 | 65778355 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2017 | |||||||
|
2 | 15 | 56253787 | intron variant | A/C | snv | 0.32 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||
|
2 | 21 | 38466112 | intron variant | T/A | snv | 0.46 | 0.700 | 1.000 | 2 | 2016 | 2019 |