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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.040 | 1.000 | 4 | 2018 | 2020 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.040 | 0.750 | 4 | 2013 | 2020 | |||
|
7 | 0.807 | 0.240 | 2 | 218164385 | missense variant | C/G | snv | 9.1E-02 | 0.11 | 0.020 | 0.500 | 2 | 2018 | 2019 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
37 | 0.627 | 0.600 | 2 | 233274722 | missense variant | A/G | snv | 0.45 | 0.44 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
1 | 9 | 35647050 | non coding transcript exon variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.120 | 9 | 117714209 | missense variant | A/G | snv | 1.1E-04 | 2.2E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
18 | 0.701 | 0.480 | 1 | 223111858 | stop gained | G/A | snv | 5.3E-02 | 4.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.807 | 0.280 | 3 | 11340656 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.120 | 14 | 55369861 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.120 | 2 | 227533680 | missense variant | A/G | snv | 4.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.160 | 7 | 22728782 | synonymous variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 |