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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
34 | 0.683 | 0.320 | 15 | 48465820 | stop gained | G/A | snv | 0.700 | 1.000 | 5 | 2001 | 2011 | |||||
|
36 | 0.689 | 0.440 | 15 | 48526247 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.708 | 0.280 | 15 | 48505106 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 16 | 1973 | 2015 | ||||
|
23 | 0.724 | 0.320 | 15 | 48411280 | stop gained | G/A;C | snv | 4.0E-05; 8.0E-06 | 0.700 | 1.000 | 3 | 1994 | 2002 | ||||
|
15 | 0.732 | 0.200 | 15 | 48420752 | missense variant | A/G;T | snv | 1.6E-05 | 0.700 | 1.000 | 14 | 1999 | 2016 | ||||
|
13 | 0.732 | 0.280 | 15 | 48470705 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
11 | 0.742 | 0.200 | 15 | 48537629 | missense variant | G/A | snv | 0.800 | 1.000 | 37 | 1993 | 2019 | |||||
|
11 | 0.742 | 0.200 | 15 | 48510125 | missense variant | G/A | snv | 0.700 | 1.000 | 8 | 1973 | 2010 | |||||
|
18 | 0.742 | 0.240 | 15 | 48425829 | stop gained | G/A | snv | 0.700 | 1.000 | 2 | 2002 | 2016 | |||||
|
15 | 0.742 | 0.240 | 15 | 48495502 | frameshift variant | T/- | delins | 0.700 | 0 | ||||||||
|
10 | 0.752 | 0.200 | 15 | 48505037 | missense variant | G/A | snv | 0.710 | 1.000 | 8 | 1973 | 2017 | |||||
|
10 | 0.752 | 0.200 | 15 | 48515382 | splice region variant | C/T | snv | 0.700 | 1.000 | 8 | 1999 | 2015 | |||||
|
10 | 0.752 | 0.200 | 15 | 48495155 | missense variant | G/A | snv | 0.700 | 1.000 | 5 | 2004 | 2017 | |||||
|
9 | 0.763 | 0.200 | 15 | 48468097 | missense variant | G/A | snv | 0.800 | 1.000 | 23 | 1996 | 2017 | |||||
|
9 | 0.763 | 0.280 | 15 | 48446701 | splice region variant | C/A;T | snv | 0.700 | 1.000 | 13 | 1995 | 2014 | |||||
|
9 | 0.763 | 0.200 | 15 | 48430736 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 10 | 1999 | 2016 | ||||
|
9 | 0.763 | 0.200 | 15 | 48515393 | missense variant | A/G | snv | 0.700 | 1.000 | 8 | 1973 | 2008 | |||||
|
9 | 0.763 | 0.200 | 15 | 48415759 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 1999 | 2014 | |||||
|
9 | 0.763 | 0.200 | 15 | 48495219 | stop gained | G/A | snv | 0.700 | 1.000 | 6 | 1991 | 2015 | |||||
|
9 | 0.763 | 0.200 | 15 | 48432944 | missense variant | A/G | snv | 0.700 | 1.000 | 4 | 2006 | 2009 | |||||
|
9 | 0.763 | 0.200 | 15 | 48468542 | splice region variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 3 | 2001 | 2009 | |||
|
9 | 0.763 | 0.200 | 15 | 48437069 | stop gained | C/A;T | snv | 0.710 | 1.000 | 2 | 2019 | 2019 | |||||
|
14 | 0.763 | 0.240 | 15 | 48510065 | stop gained | G/A | snv | 7.0E-06 | 0.710 | 1.000 | 1 | 2000 | 2000 | ||||
|
11 | 0.776 | 0.200 | 15 | 48472628 | missense variant | C/A;T | snv | 0.700 | 1.000 | 9 | 1973 | 2014 | |||||
|
10 | 0.776 | 0.240 | 15 | 48488112 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 3 | 2005 | 2009 |