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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 7 | 76302833 | missense variant | G/A;C | snv | 0.700 | 1.000 | 11 | 2004 | 2017 | |||||
|
3 | 0.925 | 0.080 | 7 | 76302828 | missense variant | C/G;T | snv | 4.4E-06 | 0.700 | 1.000 | 11 | 2004 | 2017 | ||||
|
3 | 0.882 | 0.080 | 7 | 76304099 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 76302886 | frameshift variant | -/C | delins | 2.1E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 76303852 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 7 | 76302731 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 7 | 76302962 | missense variant | G/A;C;T | snv | 6.8E-06 | 0.700 | 0 | |||||||
|
3 | 0.882 | 0.080 | 7 | 76303844 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
7 | 0.882 | 0.080 | 7 | 76303855 | missense variant | C/G | snv | 0.800 | 1.000 | 11 | 2004 | 2017 | |||||
|
3 | 0.925 | 0.040 | 7 | 76303007 | missense variant | C/A | snv | 0.800 | 1.000 | 11 | 2004 | 2017 | |||||
|
2 | 0.925 | 0.080 | 7 | 76304007 | missense variant | C/G;T | snv | 0.800 | 1.000 | 11 | 2004 | 2017 | |||||
|
3 | 1.000 | 0.040 | 7 | 76304100 | missense variant | C/T | snv | 0.800 | 1.000 | 11 | 2004 | 2017 | |||||
|
4 | 0.925 | 0.080 | 7 | 76303841 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 11 | 2004 | 2017 | |||||
|
4 | 0.851 | 0.080 | 7 | 76303816 | missense variant | C/A;T | snv | 8.0E-06 | 0.800 | 1.000 | 11 | 2004 | 2017 | ||||
|
2 | 1.000 | 0.040 | 7 | 76302870 | missense variant | G/A | snv | 1.1E-05 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.040 | 7 | 76303820 | missense variant | A/G | snv | 4.8E-05 | 2.9E-05 | 0.800 | 0 | ||||||
|
1 | 1.000 | 0.040 | 7 | 76304115 | stop gained | C/A;G;T | snv | 1.2E-05; 4.1E-06; 4.1E-06 | 0.800 | 0 |