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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 16 | 2089813 | missense variant | G/A | snv | 3.7E-03 | 3.3E-03 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 16 | 2089957 | stop gained | G/A;C | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.120 | 16 | 2090140 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090179 | missense variant | G/A;T | snv | 9.3E-04; 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2090191 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1996 | 2009 | |||||
|
1 | 1.000 | 0.120 | 16 | 2090309 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090418 | frameshift variant | CA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090468 | stop gained | A/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090508 | frameshift variant | GGTAG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090688 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2090717 | missense variant | C/A;T | snv | 6.1E-05; 1.2E-04 | 0.700 | 1.000 | 20 | 1996 | 2009 | ||||
|
1 | 1.000 | 0.120 | 16 | 2090776 | stop gained | C/A;T | snv | 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2090781 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2090962 | frameshift variant | AGTGAAGCGGCGCGGGCGGCCGCGCA/TCACTAGCTT | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2091571 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2091806 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2091861 | stop gained | G/T | snv | 4.2E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2091865 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2092079 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2092113 | frameshift variant | -/CGTAATC | delins | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 16 | 2092144 | frameshift variant | C/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2092152 | frameshift variant | TG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 16 | 2092181 | stop gained | G/A;C | snv | 1.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 16 | 2092486 | inframe deletion | CACCTGCCGCAGCCG/- | delins | 0.700 | 0 |