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 | 0.882 | 0.120 | 22 | 28711986 | stop gained | C/A;G;T | snv | 8.0E-06; 4.0E-06; 7.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 7 | 2225526 | missense variant | G/A | snv | 3.1E-03 | 3.1E-03 | 0.700 | 0 | |||||||
|
1 | 1.000 | 10 | 3781971 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 3781907 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.700 | 0 | ||||||||
|
1 | 1.000 | 10 | 3781949 | missense variant | G/T | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 3782127 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 10 | 3781811 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
3 | 0.882 | 0.080 | X | 67717495 | missense variant | G/A | snv | 7.7E-05 | 1.9E-05 | 0.700 | 0 | ||||||
|
10 | 0.827 | 0.080 | X | 67723710 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 67723711 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.882 | 0.080 | X | 67723701 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 67723786 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 67711680 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | X | 67711459 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 22 | 28725030 | missense variant | C/A;T | snv | 4.0E-06; 6.0E-05 | 0.700 | 0 | |||||||
|
2 | 0.925 | 0.080 | 10 | 87957978 | frameshift variant | AAGTA/- | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 10 | 87952189 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 16 | 72788111 | inframe insertion | TAGTTGCCGCTGCTGCTGCTGCTG/-;TAGTTGCCGCTGCTGCTGCTGCTGTAGTTGCCGCTGCTGCTGCTGCTG | delins | 3.4E-04 | 0.700 | 0 |