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 | 0.040 | 16 | 4053870 | intron variant | T/C | snv | 0.77 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 6 | 79855119 | non coding transcript exon variant | C/T | snv | 0.43 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 166001881 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 6 | 121013624 | intergenic variant | A/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 3 | 155834522 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 2 | 166144333 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 79854802 | non coding transcript exon variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.040 | 2 | 165308760 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 18628515 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | X | 154030913 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.160 | 12 | 51807116 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 9 | 128632261 | inframe deletion | ACCAGCTGG/-;ACCAGCTGGACCAGCTGG | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 1 | 235980495 | splice donor variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.040 | 20 | 10284751 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.040 | 2 | 165994212 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
7 | 0.827 | 0.120 | 2 | 165295879 | splice acceptor variant | G/A | snv | 8.4E-02 | 6.2E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
30 | 0.645 | 0.560 | 4 | 1805644 | missense variant | C/A;G;T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.790 | 0.360 | 3 | 12159406 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
8 | 0.776 | 0.240 | 2 | 166053034 | splice region variant | C/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.790 | 0.200 | X | 47574321 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 12 | 13608760 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.040 | 12 | 13615149 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 |