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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
32 | 0.658 | 0.400 | 12 | 25245347 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
15 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 3 | 2009 | 2014 | |||||
|
41 | 0.633 | 0.440 | 11 | 534287 | missense variant | GC/AG;AT;TA;TT | mnv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
73 | 0.564 | 0.600 | 11 | 534288 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.080 | 4 | 54725978 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2011 | 2012 | |||||
|
3 | 0.882 | 0.080 | 4 | 54727425 | missense variant | T/A | snv | 0.700 | 1.000 | 3 | 2011 | 2013 | |||||
|
3 | 0.925 | 0.080 | 4 | 54727437 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 2 | 2003 | 2012 | |||||
|
4 | 0.882 | 0.080 | 4 | 54727443 | inframe deletion | TTGTTG/-;TTG | delins | 0.700 | 1.000 | 4 | 2004 | 2009 | |||||
|
6 | 0.851 | 0.120 | 4 | 54727444 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 3 | 2003 | 2012 | |||||
|
10 | 0.776 | 0.120 | 4 | 54727495 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
1 | 1.000 | 0.080 | 4 | 54727496 | inframe deletion | CTTATGATC/- | delins | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.240 | 4 | 54733168 | missense variant | T/A | snv | 0.700 | 1.000 | 3 | 2007 | 2012 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.080 | 5 | 56875147 | missense variant | A/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |