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 | 0.040 | 6 | 112069555 | missense variant | T/C | snv | 0.810 | 0.909 | 11 | 1999 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 112064842 | missense variant | G/A;C | snv | 0.800 | 1.000 | 10 | 1999 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 112061174 | missense variant | T/C | snv | 0.800 | 1.000 | 10 | 1999 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 112061175 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2012 | 2015 | |||||
|
2 | 1.000 | 0.040 | 6 | 112069565 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 3 | 2012 | 2016 | ||||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 0.925 | 0.040 | 12 | 47984580 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
9 | 0.776 | 0.320 | 4 | 148436862 | splice region variant | G/A;C | snv | 4.2E-06; 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
42 | 0.641 | 0.320 | 3 | 8762685 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.040 | 12 | 47995910 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.040 | 6 | 112069548 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 6 | 112068307 | frameshift variant | T/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 112069421 | frameshift variant | AG/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 112061188 | frameshift variant | A/- | del | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 112054406 | splice donor variant | -/T | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 112069393 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 112069416 | frameshift variant | -/AC | delins | 4.8E-05 | 0.700 | 0 | |||||||
|
7 | 0.925 | 0.040 | 6 | 112064998 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 6 | 112068352 | frameshift variant | GT/- | delins | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 4 | 1999 | 2012 | |||
|
1 | 1.000 | 0.040 | 6 | 112068282 | missense variant | T/C;G | snv | 1.2E-05 | 7.0E-06 | 0.710 | 1.000 | 10 | 1999 | 2018 | |||
|
1 | 1.000 | 0.040 | 6 | 112061098 | stop gained | C/A;T | snv | 4.0E-05; 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 5 | 1999 | 2018 | |||
|
1 | 1.000 | 0.040 | 6 | 112061139 | missense variant | G/A | snv | 2.1E-05 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
3 | 1.000 | 0.040 | 11 | 61834531 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 11 | 61807686 | intron variant | A/G;T | snv | 0.28 | 0.010 | 1.000 | 1 | 2009 | 2009 |