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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.701 | 0.280 | 2 | 218890289 | missense variant | T/A | snv | 1.4E-02 | 1.4E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.776 | 0.160 | 2 | 143201176 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 2 | 88438931 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 3 | 71414748 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 1 | 201111170 | intron variant | T/C | snv | 0.56 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.160 | X | 69564858 | downstream gene variant | T/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.776 | 0.160 | 17 | 67718094 | splice region variant | G/T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.776 | 0.160 | 4 | 108350621 | TF binding site variant | C/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 4 | 4862836 | missense variant | G/C | snv | 0.800 | 1.000 | 2 | 1996 | 2002 | |||||
|
1 | 1.000 | 0.080 | 4 | 4860099 | missense variant | T/A;C | snv | 0.800 | 1.000 | 2 | 1996 | 2002 | |||||
|
1 | 1.000 | 0.080 | 4 | 4862808 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 4860231 | stop gained | C/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 4859979 | frameshift variant | -/A | delins | 0.700 | 0 |