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 | 0.851 | 0.080 | 4 | 27902934 | intergenic variant | G/A | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 2 | 176116615 | 5 prime UTR variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 8 | 61143108 | intron variant | G/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 13 | 22046068 | intron variant | C/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 5 | 103389394 | intergenic variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 10 | 2747402 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 13 | 53039424 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.080 | 8 | 18567221 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.080 | 3 | 37562521 | intron variant | T/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 21 | 41616809 | intergenic variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 16 | 31185145 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 16 | 31184986 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 31190961 | splice acceptor variant | A/- | del | 0.700 | 0 | |||||||||
|
1 | 1.000 | 16 | 31191427 | missense variant | A/T | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 16 | 31191052 | stop gained | C/T | snv | 8.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 16 | 31185031 | missense variant | G/A | snv | 6.5E-05 | 7.0E-06 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 16 | 31185103 | missense variant | G/T | snv | 1.3E-05 | 0.700 | 0 |