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 | 0.882 | 0.080 | 20 | 25079460 | missense variant | C/A;T | snv | 1.0E-03; 1.9E-03 | 0.040 | 1.000 | 4 | 2002 | 2017 | ||||
|
5 | 0.827 | 0.160 | 20 | 25077762 | missense variant | T/C;G | snv | 2.7E-03 | 0.030 | 0.667 | 3 | 2008 | 2013 | ||||
|
2 | 0.925 | 0.040 | 20 | 25079443 | missense variant | G/A;T | snv | 2.0E-05; 3.6E-05 | 0.030 | 0.667 | 3 | 2002 | 2011 | ||||
|
1 | 1.000 | 0.040 | 20 | 25081706 | missense variant | G/A;T | snv | 9.7E-06; 7.2E-03 | 0.020 | 1.000 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.040 | 20 | 25078910 | synonymous variant | T/C | snv | 0.26 | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 20 | 25079507 | missense variant | G/C | snv | 3.4E-03 | 2.9E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.040 | 20 | 25079487 | missense variant | T/C | snv | 7.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 20 | 25081705 | missense variant | C/G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 20 | 25078745 | synonymous variant | A/T | snv | 0.26 | 0.30 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.040 | 20 | 25078806 | missense variant | C/G;T | snv | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.040 | 20 | 25079464 | missense variant | A/G;T | snv | 4.0E-06; 4.8E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.040 | 20 | 25078931 | missense variant | C/G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 |