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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.120 | 19 | 17834908 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
1 | 1.000 | 0.120 | 2 | 97737814 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.120 | 20 | 44626514 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | 3 | 50330655 | missense variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.120 | X | 71110946 | frameshift variant | A/- | delins | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 3 | 50331718 | missense variant | G/A | snv | 8.0E-06 | 1.4E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.120 | 20 | 44622588 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 50331652 | missense variant | G/A | snv | 4.0E-06 | 4.2E-05 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.120 | 19 | 17831775 | frameshift variant | TGACCAGCCGCAGGCTCTGGCG/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 35874447 | splice acceptor variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 19 | 17837148 | synonymous variant | G/A | snv | 5.8E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 19 | 17842498 | frameshift variant | AG/- | del | 4.7E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 11 | 36575907 | missense variant | C/T | snv | 2.8E-05 | 7.0E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 36593952 | missense variant | G/A | snv | 2.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.120 | 11 | 36593841 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 35867354 | frameshift variant | -/ATATATTTCA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 35873481 | missense variant | A/C;G | snv | 4.8E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 5 | 35873558 | stop gained | CG/TA | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 35873586 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 35875988 | stop lost | A/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 1 | 167518464 | start lost | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.120 | 11 | 36576228 | missense variant | G/A;C | snv | 4.4E-05; 4.0E-06 | 0.700 | 1.000 | 8 | 2000 | 2016 | ||||
|
2 | 0.925 | 0.120 | 5 | 35871070 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
2 | 0.925 | 0.120 | 12 | 121627018 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.120 | 5 | 42711220 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 |