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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.080 | 3 | 36993521 | 5 prime UTR variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2011 | 2014 | ||||
|
8 | 0.925 | 0.200 | 3 | 36993548 | start lost | A/C;G | snv | 0.700 | 1.000 | 2 | 2001 | 2015 | |||||
|
4 | 0.925 | 0.160 | 3 | 36993550 | start lost | G/A;T | snv | 0.700 | 0 | ||||||||
|
1 | 3 | 36993553 | frameshift variant | CGTGGCAGGGGTT/- | delins | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.160 | 3 | 36993572 | stop gained | CG/TA | mnv | 0.700 | 0 | ||||||||
|
1 | 3 | 36993574 | synonymous variant | G/A;C;T | snv | 8.0E-06 | 0.700 | 1.000 | 2 | 2013 | 2018 | ||||||
|
3 | 1.000 | 0.160 | 3 | 36993584 | stop gained | G/A;C;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.160 | 3 | 36993584 | frameshift variant | -/A;CCCA | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 3 | 36993609 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.160 | 3 | 36993610 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 3 | 36993614 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 36993630 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.925 | 0.160 | 3 | 36993659 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 3 | 36993660 | missense variant | A/C;G | snv | 0.700 | 1.000 | 8 | 2002 | 2016 | |||||
|
3 | 0.925 | 0.160 | 3 | 36993664 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2005 | 2014 | |||||
|
3 | 1.000 | 0.160 | 3 | 36993668 | missense variant | G/A;C | snv | 2.8E-05 | 0.700 | 1.000 | 2 | 2009 | 2013 | ||||
|
3 | 1.000 | 0.160 | 3 | 36996617 | splice acceptor variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.160 | 3 | 36996619 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.160 | 3 | 36996624 | stop lost | A/G;T | snv | 0.700 | 1.000 | 5 | 2003 | 2015 | |||||
|
1 | 3 | 36996628 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||||
|
3 | 1.000 | 0.160 | 3 | 36996656 | frameshift variant | AA/-;A;AAA | delins | 0.700 | 1.000 | 2 | 2003 | 2011 | |||||
|
5 | 0.882 | 0.160 | 3 | 36996686 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.160 | 3 | 36996689 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2002 | 2011 | |||||
|
1 | 3 | 36996697 | frameshift variant | C/ATCTT | delins | 0.700 | 0 | ||||||||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 14 | 1995 | 2013 |