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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.807 | 0.480 | 2 | 47800616 | missense variant | T/C;G | snv | 5.1E-03 | 0.710 | 1.000 | 13 | 1999 | 2012 | ||||
|
2 | 0.925 | 0.160 | 2 | 47806838 | missense variant | T/A;C | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
3 | 1.000 | 0.080 | 2 | 47800544 | missense variant | A/T | snv | 3.9E-04 | 3.5E-04 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
3 | 0.925 | 0.160 | 2 | 47799679 | stop gained | G/A;T | snv | 2.4E-04 | 2.8E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 47804943 | missense variant | T/C | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
2 | 0.925 | 0.160 | 2 | 47803531 | missense variant | G/A | snv | 4.8E-05 | 2.8E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 47801045 | missense variant | C/A;G | snv | 8.4E-06 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 47800158 | missense variant | C/G | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
1 | 1.000 | 0.080 | 2 | 47800037 | missense variant | G/C | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
2 | 0.925 | 0.160 | 2 | 47800532 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 47803546 | missense variant | C/G;T | snv | 7.6E-05; 4.0E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
6 | 0.851 | 0.160 | 2 | 47803473 | missense variant | C/G;T | snv | 4.0E-06; 9.5E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 47800343 | missense variant | C/G;T | snv | 0.700 | 1.000 | 12 | 1999 | 2012 | |||||
|
3 | 0.882 | 0.200 | 2 | 47783292 | missense variant | C/A;T | snv | 4.1E-06; 9.4E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
1 | 1.000 | 0.080 | 2 | 47800298 | missense variant | G/A | snv | 1.6E-05 | 2.1E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | |||
|
8 | 0.827 | 0.200 | 2 | 47799329 | missense variant | T/C | snv | 1.2E-05 | 0.700 | 1.000 | 12 | 1999 | 2012 | ||||
|
3 | 0.882 | 0.200 | 2 | 47791097 | missense variant | G/T | snv | 9.4E-04 | 1.5E-03 | 0.700 | 0 | ||||||
|
4 | 0.851 | 0.120 | 2 | 47799002 | missense variant | T/C | snv | 3.6E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 2 | 47800685 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 47801075 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 2 | 47806501 | missense variant | C/A;G;T | snv | 1.9E-04 | 3.5E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 47798837 | missense variant | G/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 47806299 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 2 | 47800382 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.080 | 2 | 47806213 | missense variant | C/A;T | snv | 0.700 | 0 |