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 | 1.000 | 0.120 | X | 37803991 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37804010 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37796045 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37798956 | stop gained | C/T | snv | 5.8E-06 | 9.5E-06 | 0.700 | 1.000 | 7 | 1992 | 2018 | |||
|
1 | 1.000 | 0.120 | X | 37783565 | stop gained | C/T | snv | 0.700 | 1.000 | 4 | 1991 | 2015 | |||||
|
9 | 0.776 | 0.320 | 16 | 88643329 | 3 prime UTR variant | C/T | snv | 0.49 | 0.48 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.120 | X | 37799061 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 1996 | 1996 | |||||
|
1 | 1.000 | 0.120 | X | 37804064 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.925 | 0.160 | X | 37793674 | missense variant | C/T | snv | 5.5E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.120 | X | 37782132 | stop gained | CCG/GGT | mnv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 37793793 | missense variant | G/A | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37803904 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37803944 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37805076 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37796002 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37806386 | splice acceptor variant | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2010 | |||||
|
1 | 1.000 | 0.120 | X | 37810906 | missense variant | G/A | snv | 0.700 | 1.000 | 2 | 2000 | 2010 | |||||
|
1 | 1.000 | 0.120 | X | 37803990 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | X | 37805020 | missense variant | G/A;C | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37799011 | missense variant | G/A;C | snv | 0.800 | 1.000 | 20 | 1989 | 2016 | |||||
|
1 | 1.000 | 0.120 | X | 37804046 | missense variant | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1989 | 2016 | ||||
|
1 | 1.000 | 0.120 | X | 37805077 | missense variant | G/A;C | snv | 5.5E-06 | 0.700 | 1.000 | 20 | 1989 | 2016 | ||||
|
1 | 1.000 | 0.120 | X | 37783600 | splice region variant | G/A;T | snv | 0.700 | 1.000 | 4 | 1998 | 2012 | |||||
|
1 | 1.000 | 0.120 | X | 37782100 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1989 | 2016 | |||||
|
2 | 1.000 | 0.120 | X | 37783510 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1989 | 2016 |