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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
8 | 0.851 | 0.080 | 2 | 157774114 | missense variant | C/G;T | snv | 0.900 | 1.000 | 39 | 2006 | 2020 | |||||
|
4 | 1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv | 0.840 | 0.857 | 7 | 2006 | 2014 | |||||
|
3 | 0.925 | 0.120 | 2 | 157766004 | missense variant | C/A;T | snv | 0.820 | 1.000 | 5 | 2006 | 2012 | |||||
|
1 | 1.000 | 0.040 | 2 | 157766005 | missense variant | C/A;T | snv | 0.800 | 1.000 | 3 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.040 | 2 | 157761020 | missense variant | C/G | snv | 0.800 | 1.000 | 3 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.040 | 2 | 157774126 | missense variant | C/A | snv | 0.800 | 1.000 | 3 | 2006 | 2009 | |||||
|
1 | 1.000 | 0.040 | 2 | 157774144 | missense variant | A/G | snv | 0.720 | 1.000 | 2 | 2011 | 2014 | |||||
|
3 | 0.882 | 0.160 | 2 | 157770386 | missense variant | T/C;G | snv | 4.0E-06 | 0.710 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 2 | 157770384 | missense variant | C/G;T | snv | 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 2 | 157760946 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 0.925 | 0.200 | 2 | 157770468 | synonymous variant | C/T | snv | 0.97 | 0.92 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 4 | 145539990 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 1 | 153645138 | missense variant | C/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 17 | 56594498 | missense variant | G/A | snv | 1.7E-03 | 1.7E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 14 | 53950453 | missense variant | C/T | snv | 3.0E-04 | 9.1E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
1 | 1.000 | 0.040 | 2 | 157770421 | missense variant | A/T | snv | 8.8E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 14 | 53950783 | missense variant | C/T | snv | 4.8E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 |