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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.827 | 0.160 | 4 | 55457430 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 13 | 98684036 | 3 prime UTR variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 4171402 | stop gained | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 1.000 | 0.040 | 13 | 98723927 | missense variant | C/G;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.790 | 0.200 | 4 | 55460540 | intron variant | G/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 13 | 98684126 | 3 prime UTR variant | T/C | snv | 0.11 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 11 | 116836867 | intron variant | A/G | snv | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 116821618 | missense variant | C/T | snv | 0.80 | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
8 | 0.925 | 0.080 | 11 | 116832924 | 3 prime UTR variant | G/C | snv | 0.84 | 0.87 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
4 | 0.925 | 0.120 | 7 | 116551247 | intron variant | C/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
33 | 0.689 | 0.480 | 11 | 116792991 | upstream gene variant | G/A | snv | 0.90 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
2 | 1.000 | 0.080 | 8 | 19954131 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.882 | 0.160 | 11 | 116768388 | intron variant | A/G;T | snv | 0.93 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 8 | 125483576 | intron variant | C/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 183040142 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 1 | 183083398 | intron variant | C/T | snv | 0.33 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 116802796 | intergenic variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 3 | 49292533 | missense variant | T/C | snv | 1.1E-04 | 3.1E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 11 | 116736721 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
10 | 8 | 125465736 | upstream gene variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |