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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
60 | 0.689 | 0.400 | 6 | 42978878 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
33 | 0.716 | 0.480 | 22 | 20996071 | stop gained | C/A;T | snv | 4.0E-06; 8.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
29 | 0.658 | 0.560 | 11 | 534285 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.776 | 0.400 | 12 | 25245284 | missense variant | G/A;C | snv | 0.700 | 1.000 | 3 | 2006 | 2011 | |||||
|
28 | 0.672 | 0.400 | 13 | 20189511 | stop gained | C/T | snv | 5.8E-04 | 1.1E-04 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.200 | 13 | 108210436 | missense variant | C/A;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
4 | 0.882 | 0.040 | X | 119871933 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.120 | X | 119873312 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
9 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | X | 72464626 | protein altering variant | TGGAG/AC | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 0.925 | 14 | 58444158 | stop gained | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
7 | 0.851 | 0.040 | 8 | 41933963 | frameshift variant | CACT/- | delins | 0.700 | 0 | ||||||||
|
13 | 0.776 | 0.280 | 11 | 6614968 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.120 | 1 | 1529299 | missense variant | C/T | snv | 0.710 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.882 | 0.160 | 16 | 1447498 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 16 | 78108446 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
25 | 0.742 | 0.400 | 20 | 50894172 | frameshift variant | ACTA/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.827 | 0.200 | 8 | 143816821 | splice acceptor variant | T/C | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | X | 65524113 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
6 | 1.000 | 15 | 25354536 | missense variant | C/T | snv | 0.700 | 0 | |||||||||
|
4 | 0.925 | 0.080 | 14 | 101986027 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
5 | 1.000 | 6 | 33441374 | splice region variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 6 | 33443751 | frameshift variant | C/- | delins | 0.700 | 0 |