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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.120 | 11 | 36594065 | missense variant | C/A;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 4 | 2001 | 2012 | ||||
|
2 | 1.000 | 0.120 | 11 | 36592794 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2012 | 2015 | ||||
|
2 | 1.000 | 0.120 | 11 | 36592812 | missense variant | A/T | snv | 0.700 | 1.000 | 2 | 2000 | 2002 | |||||
|
1 | 6 | 3113257 | missense variant | C/T | snv | 5.6E-05 | 1.0E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 11 | 36594046 | missense variant | G/A;C | snv | 2.8E-05 | 0.700 | 1.000 | 1 | 2001 | 2001 | ||||
|
2 | 1.000 | 0.120 | 11 | 36593315 | missense variant | A/C | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
4 | 0.882 | 0.120 | 11 | 36594054 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2001 | 2001 | |||||
|
2 | 1.000 | 0.160 | 11 | 36593939 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 1.000 | 6 | 3104263 | frameshift variant | G/- | del | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 3113125 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.120 | 11 | 36592803 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.120 | 11 | 36593699 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 11 | 36593983 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 6 | 3105753 | stop gained | C/A;G;T | snv | 4.0E-06; 1.0E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 3113167 | missense variant | T/C | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1.000 | 0.120 | 11 | 36592849 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.120 | 11 | 36593951 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 1.000 | 0.120 | 11 | 36592840 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.120 | 11 | 36593976 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 11 | 36593630 | missense variant | G/T | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 36593586 | missense variant | A/C;G | snv | 4.0E-06 | 2.1E-05 | 0.700 | 0 | ||||||||
|
1 | 11 | 36594167 | start lost | A/G | snv | 0.700 | 0 | ||||||||||
|
1 | 11 | 36592831 | missense variant | G/C | snv | 0.700 | 0 |