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 | 0.080 | 1 | 11285832 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 1 | 230710465 | missense variant | T/C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.807 | 0.080 | 1 | 36098332 | missense variant | A/C;G | snv | 4.6E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 3 | 62203515 | missense variant | G/A | snv | 0.19 | 0.16 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 3 | 62047679 | intron variant | C/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.724 | 0.200 | 5 | 136046407 | missense variant | G/A;T | snv | 4.0E-05 | 0.100 | 1.000 | 13 | 1998 | 2019 | ||||
|
13 | 0.724 | 0.240 | 5 | 136056780 | missense variant | C/T | snv | 7.0E-06 | 0.070 | 1.000 | 7 | 2000 | 2015 | ||||
|
14 | 0.708 | 0.200 | 5 | 136046406 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.070 | 1.000 | 7 | 1998 | 2019 | ||||
|
9 | 0.763 | 0.160 | 5 | 136056781 | missense variant | G/A | snv | 0.040 | 1.000 | 4 | 2000 | 2007 | |||||
|
5 | 0.827 | 0.200 | 5 | 136060907 | missense variant | A/G | snv | 0.020 | 1.000 | 2 | 2002 | 2010 | |||||
|
6 | 0.790 | 0.200 | 5 | 136060898 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2005 | 2009 | |||||
|
2 | 0.925 | 0.080 | 5 | 136046373 | missense variant | G/A;T | snv | 1.5E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.160 | 8 | 85480683 | missense variant | G/A | snv | 1.4E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.080 | 9 | 121302147 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 9 | 121310774 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
2 | 0.925 | 0.080 | 10 | 104037688 | synonymous variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2018 | |||
|
3 | 0.882 | 0.160 | 14 | 94382864 | missense variant | C/T | snv | 0.16 | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 0.925 | 0.080 | 16 | 75479500 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.882 | 0.080 | 16 | 75479311 | missense variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.080 | 17 | 82766304 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 |