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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.120 | 7 | 114662075 | missense variant | G/A | snv | 0.810 | 1.000 | 3 | 2001 | 2017 | |||||
|
2 | 1.000 | 0.120 | 7 | 114642616 | stop gained | C/T | snv | 0.710 | 1.000 | 2 | 2005 | 2012 | |||||
|
1 | 1.000 | 0.120 | 7 | 114426561 | missense variant | A/T | snv | 4.3E-04 | 3.3E-04 | 0.700 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.120 | 7 | 114629883 | inframe insertion | ACAACAGCAGCA/-;ACAACAGCAGCAACAACAGCAGCA | delins | 6.3E-05 | 0.700 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.120 | 7 | 114652275 | frameshift variant | CA/- | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.120 | 7 | 114659617 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.120 | 7 | 114662188 | splice donor variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 7 | 114658225 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 112623837 | missense variant | G/A;C;T | snv | 4.1E-06; 1.2E-02 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 4 | 112585555 | missense variant | C/G;T | snv | 4.1E-06; 1.3E-02 | 0.700 | 0 | |||||||
|
10 | 0.763 | 0.280 | 17 | 64350416 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.120 | 3 | 70972170 | missense variant | C/A;T | snv | 1.6E-05; 8.1E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.790 | 0.160 | 12 | 57140687 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
8 | 0.851 | 0.320 | 17 | 7675146 | missense variant | G/A | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
5 | 0.851 | 0.240 | 1 | 197061891 | missense variant | C/T | snv | 0.88 | 0.76 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 2 | 20996129 | downstream gene variant | G/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
24 | 0.708 | 0.440 | 2 | 21009323 | synonymous variant | G/A | snv | 0.39 | 0.38 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
5 | 0.827 | 0.280 | 9 | 34648170 | missense variant | A/G | snv | 1.4E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.120 | 3 | 70972053 | missense variant | C/T | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.240 | 7 | 124863547 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.120 | 3 | 70972666 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 |