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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.807 | 0.200 | 17 | 43063903 | missense variant | G/A;C;T | snv | 2.8E-05; 4.0E-06; 2.0E-05 | 0.700 | 1.000 | 28 | 1994 | 2016 | ||||
|
6 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 0.700 | 1.000 | 28 | 1994 | 2013 | ||||
|
6 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 26 | 1996 | 2016 | ||||
|
7 | 0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 26 | 2004 | 2019 | |||||
|
5 | 0.851 | 0.200 | 13 | 32394803 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 22 | 2000 | 2017 | ||||
|
3 | 0.925 | 0.200 | 17 | 43106528 | missense variant | C/A;T | snv | 0.700 | 1.000 | 22 | 1996 | 2018 | |||||
|
7 | 0.827 | 0.200 | 17 | 43124028 | frameshift variant | CT/-;CTCT | delins | 0.700 | 1.000 | 22 | 1994 | 2018 | |||||
|
11 | 0.752 | 0.200 | 17 | 43093844 | stop gained | G/A;C | snv | 2.8E-05; 4.0E-06 | 0.700 | 1.000 | 20 | 1995 | 2016 | ||||
|
4 | 0.882 | 0.200 | 17 | 43049164 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1998 | 2016 | ||||
|
5 | 0.851 | 0.200 | 17 | 43091827 | frameshift variant | TTTAC/- | delins | 0.700 | 1.000 | 20 | 1995 | 2016 | |||||
|
4 | 0.882 | 0.200 | 13 | 32339700 | frameshift variant | AAA/-;A;AA;AAAA;AAAAA | delins | 2.8E-05 | 0.700 | 1.000 | 20 | 1997 | 2016 | ||||
|
3 | 0.925 | 0.200 | 17 | 43106477 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 19 | 1994 | 2014 | |||||
|
5 | 0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv | 0.700 | 1.000 | 19 | 1996 | 2018 | |||||
|
4 | 0.882 | 0.200 | 17 | 43106478 | stop lost | A/C;G | snv | 1.2E-05 | 0.710 | 1.000 | 19 | 1994 | 2015 | ||||
|
4 | 0.882 | 0.200 | 13 | 32394717 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 7.6E-05 | 0.700 | 1.000 | 19 | 1996 | 2018 | ||||
|
8 | 0.851 | 0.200 | 17 | 43091924 | stop gained | G/A;C | snv | 1.2E-05 | 0.700 | 1.000 | 18 | 1994 | 2016 | ||||
|
4 | 0.882 | 0.200 | 17 | 43067616 | missense variant | A/C;G | snv | 0.700 | 1.000 | 18 | 2003 | 2016 | |||||
|
6 | 0.827 | 0.200 | 17 | 43045773 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1998 | 2016 | ||||
|
4 | 0.925 | 0.200 | 17 | 43092197 | frameshift variant | GCTT/- | delins | 0.700 | 1.000 | 18 | 1996 | 2016 | |||||
|
7 | 0.807 | 0.200 | 13 | 32379886 | frameshift variant | AAAA/-;AAA;AAAAA | delins | 4.0E-06 | 0.700 | 1.000 | 17 | 1997 | 2015 | ||||
|
7 | 0.827 | 0.200 | 17 | 43057078 | stop gained | G/A;C;T | snv | 1.2E-05 | 0.700 | 1.000 | 17 | 1997 | 2016 | ||||
|
4 | 0.882 | 0.200 | 17 | 43076488 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1997 | 2014 | ||||
|
5 | 0.882 | 0.200 | 17 | 43092302 | frameshift variant | CT/- | delins | 4.0E-06 | 0.700 | 1.000 | 17 | 1998 | 2016 | ||||
|
6 | 0.882 | 0.200 | 13 | 32363445 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 1.000 | 17 | 2004 | 2016 | ||||
|
6 | 0.851 | 0.200 | 13 | 32337161 | frameshift variant | ACAA/- | delins | 2.1E-05 | 0.700 | 1.000 | 17 | 1998 | 2015 |