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 | 0.925 | 0.160 | 11 | 17395659 | missense variant | G/A | snv | 0.800 | 1.000 | 27 | 1996 | 2015 | |||||
|
6 | 0.807 | 0.160 | 11 | 17474955 | missense variant | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 25 | 1996 | 2016 | ||||
|
1 | 1.000 | 0.120 | 11 | 17442842 | missense variant | A/G | snv | 0.800 | 1.000 | 24 | 1996 | 2015 | |||||
|
3 | 0.882 | 0.120 | 11 | 17395664 | missense variant | C/A;T | snv | 0.800 | 1.000 | 23 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17393088 | missense variant | A/T | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.800 | 1.000 | 20 | 1996 | 2015 | |||||
|
3 | 0.882 | 0.160 | 11 | 17395852 | stop gained | C/A;T | snv | 1.5E-05 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17395234 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 17396980 | missense variant | C/G;T | snv | 8.0E-06; 2.0E-05 | 0.800 | 1.000 | 20 | 1996 | 2015 | ||||
|
2 | 0.925 | 0.120 | 11 | 17395610 | missense variant | C/G;T | snv | 0.800 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17397296 | missense variant | G/A;T | snv | 4.4E-05 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17407407 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17427124 | missense variant | C/A;T | snv | 0.800 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17430858 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17442827 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17448632 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.120 | 11 | 17470167 | missense variant | C/G | snv | 0.700 | 1.000 | 20 | 1996 | 2015 | |||||
|
2 | 0.925 | 0.120 | 11 | 17395872 | missense variant | C/A;T | snv | 3.9E-05 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17395909 | missense variant | C/T | snv | 9.8E-06 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.120 | 11 | 17476758 | missense variant | C/G;T | snv | 5.0E-06; 5.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2015 | ||||
|
3 | 0.882 | 0.120 | 11 | 17397055 | missense variant | C/G;T | snv | 3.3E-04 | 0.700 | 1.000 | 16 | 1995 | 2014 | ||||
|
2 | 0.925 | 0.120 | 11 | 17395888 | inframe deletion | AAG/- | delins | 0.700 | 1.000 | 8 | 1996 | 2011 | |||||
|
1 | 1.000 | 0.120 | 11 | 17463454 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 1998 | 2016 | |||||
|
1 | 1.000 | 0.120 | 11 | 17394333 | missense variant | C/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 6 | 2003 | 2016 | ||||
|
2 | 0.925 | 0.120 | 11 | 17461722 | missense variant | C/T | snv | 0.700 | 1.000 | 5 | 2005 | 2013 |