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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.200 | 17 | 43115729 | missense variant | C/A;T | snv | 0.700 | 1.000 | 24 | 2003 | 2019 | |||||
|
2 | 0.925 | 0.080 | 17 | 43049170 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2017 | ||||
|
2 | 0.925 | 0.080 | 17 | 43091931 | missense variant | C/A;G | snv | 1.2E-04; 2.3E-04 | 0.700 | 1.000 | 18 | 1996 | 2017 | ||||
|
5 | 0.827 | 0.200 | 17 | 43049188 | missense variant | A/C;G;T | snv | 8.0E-06 | 0.800 | 1.000 | 16 | 2003 | 2017 | ||||
|
1 | 1.000 | 17 | 43093028 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 15 | 2003 | 2017 | ||||
|
6 | 0.851 | 0.160 | 17 | 43093010 | missense variant | G/A | snv | 1.7E-03 | 1.4E-03 | 0.700 | 1.000 | 14 | 2004 | 2017 | |||
|
6 | 0.827 | 0.200 | 17 | 43082434 | stop gained | G/A;C | snv | 2.4E-05; 3.2E-05 | 0.700 | 1.000 | 14 | 1994 | 2013 | ||||
|
3 | 0.925 | 0.080 | 17 | 43124044 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 14 | 1996 | 2019 | |||||
|
6 | 0.851 | 0.200 | 17 | 43045767 | stop gained | G/A | snv | 1.2E-05 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 17 | 43063882 | missense variant | C/A;T | snv | 0.700 | 1.000 | 13 | 2001 | 2019 | ||||||
|
12 | 0.763 | 0.280 | 17 | 43063930 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.700 | 1.000 | 12 | 2001 | 2019 | ||||
|
3 | 0.925 | 0.200 | 17 | 43106477 | splice donor variant | C/G;T | snv | 0.700 | 1.000 | 12 | 2000 | 2019 | |||||
|
5 | 0.851 | 0.200 | 17 | 43045761 | missense variant | A/C;G | snv | 0.700 | 1.000 | 12 | 1996 | 2019 | |||||
|
6 | 0.827 | 0.200 | 17 | 43115730 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 12 | 2001 | 2016 | |||||
|
7 | 0.851 | 0.200 | 17 | 43057122 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 11 | 2004 | 2016 | |||||
|
4 | 0.882 | 0.200 | 17 | 43051104 | missense variant | A/G | snv | 0.700 | 1.000 | 11 | 2005 | 2016 | |||||
|
3 | 0.925 | 0.200 | 17 | 43106455 | splice donor variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 1995 | 2019 | ||||
|
3 | 0.925 | 0.200 | 17 | 43070922 | splice region variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 11 | 2001 | 2019 | ||||
|
3 | 0.925 | 0.200 | 17 | 43047642 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 11 | 2001 | 2015 | ||||
|
4 | 0.882 | 0.200 | 17 | 43076488 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 10 | 2007 | 2019 | ||||
|
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 | 9 | 2003 | 2012 | ||||
|
4 | 0.882 | 0.200 | 17 | 43106478 | stop lost | A/C;G | snv | 1.2E-05 | 0.700 | 1.000 | 9 | 1994 | 2013 | ||||
|
4 | 0.882 | 0.200 | 17 | 43049164 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 9 | 1998 | 2015 | ||||
|
3 | 0.925 | 0.200 | 17 | 43082403 | splice donor variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2004 | 2019 | ||||
|
4 | 0.882 | 0.200 | 17 | 43104968 | intron variant | T/C | snv | 0.700 | 1.000 | 9 | 1998 | 2019 |