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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1 | 150623061 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
17 | 0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 14 | 75509305 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 2 | 96535945 | upstream gene variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.800 | 1.000 | 2 | 2009 | 2016 | ||||
|
3 | 8 | 144103704 | missense variant | G/A;C | snv | 7.3E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 8 | 47739071 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
2 | 19 | 3179519 | missense variant | C/G;T | snv | 1.3E-02 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||||
|
4 | 22 | 24225858 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
8 | 0.882 | 0.080 | 7 | 92606850 | 3 prime UTR variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
5 | 0.882 | 0.120 | 5 | 151081488 | intron variant | A/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
3 | 17 | 75805073 | intron variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
5 | 0.925 | 0.200 | 21 | 35343463 | intron variant | C/G;T | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||
|
1 | 5 | 111090753 | intron variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 14 | 25034593 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 2 | 159712765 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 2 | 61476184 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 7 | 124813204 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
3 | 1.000 | 0.080 | 5 | 142119476 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 11 | 309127 | missense variant | A/C;G;T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 27650705 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
4 | 1.000 | 0.080 | 10 | 8553876 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
7 | 0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.882 | 0.200 | 10 | 8073399 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |