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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 6 | 154090209 | intron variant | G/A | snv | 8.5E-02 | 0.10 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 1.000 | 0.080 | 3 | 114181373 | intron variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.080 | 5 | 175445317 | upstream gene variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 65218385 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 11 | 113910259 | intron variant | T/C | snv | 6.1E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 9 | 13235288 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 17 | 65135491 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.080 | 5 | 161332949 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 65208091 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 65201802 | intron variant | T/C | snv | 0.20 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 5 | 175443899 | 5 prime UTR variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 17 | 65199474 | intron variant | C/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 154058017 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 20 | 62738120 | intron variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.160 | 17 | 65230912 | downstream gene variant | A/C | snv | 0.17 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 17 | 65136210 | intron variant | C/T | snv | 0.75 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.851 | 0.160 | 5 | 175443193 | 5 prime UTR variant | C/T | snv | 0.15 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 6 | 154093438 | synonymous variant | C/T | snv | 0.71 | 0.66 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.080 | 5 | 161333168 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
9 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
6 | 0.827 | 0.160 | 2 | 184668853 | intron variant | T/C | snv | 0.53 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 7 | 50528268 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |