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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.160 | 3 | 87262138 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
1 | 1.000 | 0.080 | 12 | 120994164 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.120 | 5 | 177994185 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.882 | 0.160 | 5 | 177994231 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 2 | 25161178 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 57198449 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 4 | 94579531 | missense variant | T/C | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 5 | 177994152 | missense variant | C/T | snv | 3.6E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
1 | 1.000 | 0.080 | 9 | 136200631 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 57198805 | missense variant | T/C | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.080 | 14 | 56802204 | missense variant | G/C;T | snv | 2.1E-04; 1.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.080 | 6 | 32977805 | missense variant | C/A;T | snv | 4.1E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 3 | 57198784 | missense variant | C/T | snv | 7.6E-05 | 1.1E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 57198280 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.080 | 9 | 136199032 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 1 | 180266520 | missense variant | C/T | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.160 | 3 | 87259977 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.120 | 5 | 177993032 | missense variant | G/A | snv | 6.8E-05 | 4.9E-05 | 0.020 | 1.000 | 2 | 2002 | 2006 | |||
|
2 | 0.925 | 0.120 | 3 | 57199842 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2003 | 2016 | |||||
|
1 | 1.000 | 0.080 | 3 | 57198276 | missense variant | C/T | snv | 8.0E-06 | 2.8E-05 | 0.020 | 1.000 | 2 | 2011 | 2016 | |||
|
5 | 0.851 | 0.200 | 3 | 87259959 | missense variant | G/A | snv | 0.040 | 0.750 | 4 | 1998 | 2015 | |||||
|
87 | 0.611 | 0.560 | 15 | 23645747 | frameshift variant | G/-;GG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 3 | 87261296 | frameshift variant | CTTTC/- | delins | 0.700 | 0 |