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 | 0.160 | 21 | 45989617 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 11 | 1994 | 2017 | |||||
|
1 | 1.000 | 0.120 | 21 | 45984403 | missense variant | A/G | snv | 0.800 | 1.000 | 7 | 1996 | 2017 | |||||
|
1 | 1.000 | 0.120 | 21 | 45990792 | missense variant | G/A;T | snv | 0.800 | 1.000 | 5 | 1996 | 2010 | |||||
|
1 | 1.000 | 0.120 | 21 | 46115881 | missense variant | G/A | snv | 0.800 | 1.000 | 5 | 1996 | 2010 | |||||
|
1 | 1.000 | 0.120 | 21 | 46125509 | missense variant | G/A | snv | 0.800 | 1.000 | 3 | 2002 | 2010 | |||||
|
1 | 1.000 | 0.120 | 2 | 237367010 | missense variant | A/C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 0.925 | 0.160 | 21 | 46126144 | missense variant | T/C | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 2 | 237360131 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 21 | 46132287 | missense variant | C/G;T | snv | 2.5E-03 | 0.800 | 0 | |||||||
|
1 | 1.000 | 0.120 | 2 | 237367151 | missense variant | C/T | snv | 0.800 | 0 | ||||||||
|
2 | 1.000 | 0.120 | 21 | 45989626 | missense variant | G/A | snv | 0.710 | 1.000 | 7 | 2010 | 2019 | |||||
|
3 | 0.882 | 0.160 | 21 | 45989129 | missense variant | G/A | snv | 0.700 | 1.000 | 9 | 1994 | 2014 | |||||
|
1 | 1.000 | 0.120 | 21 | 45989753 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 1993 | 2013 | |||||
|
1 | 1.000 | 0.120 | 2 | 237369064 | missense variant | T/C | snv | 5.1E-04 | 3.0E-04 | 0.700 | 1.000 | 5 | 1998 | 2010 | |||
|
1 | 1.000 | 0.120 | 21 | 45989103 | missense variant | G/T | snv | 0.700 | 1.000 | 5 | 1993 | 2013 | |||||
|
1 | 1.000 | 0.120 | 21 | 45989100 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 5 | 1996 | 2010 | ||||
|
3 | 0.882 | 0.160 | 21 | 46115917 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 1993 | 2013 | |||||
|
1 | 1.000 | 0.120 | 2 | 237379103 | missense variant | C/A;T | snv | 8.0E-06; 1.5E-03 | 0.700 | 1.000 | 5 | 1998 | 2010 | ||||
|
1 | 1.000 | 0.120 | 2 | 237361138 | missense variant | C/G;T | snv | 0.700 | 1.000 | 5 | 1994 | 2017 | |||||
|
2 | 0.925 | 0.120 | 21 | 45990827 | splice donor variant | G/A | snv | 0.700 | 1.000 | 5 | 1999 | 2013 | |||||
|
1 | 1.000 | 0.120 | 21 | 46116010 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 1993 | 2013 | |||||
|
6 | 0.925 | 0.160 | 21 | 46125776 | intron variant | G/A | snv | 1.1E-04 | 7.7E-05 | 0.700 | 1.000 | 5 | 2009 | 2015 | |||
|
1 | 1.000 | 0.120 | 21 | 45990791 | missense variant | G/C;T | snv | 0.700 | 1.000 | 5 | 2005 | 2018 | |||||
|
1 | 1.000 | 0.120 | 21 | 45987638 | missense variant | G/A;T | snv | 0.700 | 1.000 | 5 | 1993 | 2013 | |||||
|
1 | 1.000 | 0.120 | 2 | 237360158 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 1993 | 2013 |