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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 17 | 4121530 | intron variant | G/A | snv | 3.2E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 17 | 4111090 | intron variant | G/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 17 | 4044350 | missense variant | T/C | snv | 0.45 | 0.53 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 17 | 4049808 | missense variant | A/G | snv | 0.41 | 0.50 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 17 | 4082570 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 20 | 45877779 | synonymous variant | G/A | snv | 0.56 | 0.52 | 0.700 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 1.000 | 0.080 | 1 | 33480230 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 1 | 33480000 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 2 | 135262159 | intron variant | C/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
15 | 0.752 | 0.400 | 11 | 116790676 | missense variant | C/A;T | snv | 6.4E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
10 | 0.882 | 0.160 | 11 | 116782580 | intron variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.160 | 16 | 75052977 | intron variant | A/T | snv | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.080 | 7 | 150387372 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.080 | 8 | 144778182 | non coding transcript exon variant | A/G | snv | 0.48 | 0.37 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.080 | 19 | 22074756 | intron variant | T/C | snv | 9.6E-04 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 18 | 76849628 | missense variant | A/G;T | snv | 4.1E-06; 4.1E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.080 | 18 | 76849634 | missense variant | A/G | snv | 4.1E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
1 | 1.000 | 0.080 | 18 | 76904406 | missense variant | C/G | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
5 | 1.000 | 0.080 | 19 | 19678719 | splice region variant | A/G | snv | 0.10 | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.080 | 10 | 240248 | intron variant | G/A | snv | 8.8E-03 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
2 | 0.925 | 0.120 | 10 | 79182874 | intron variant | A/G | snv | 0.46 | 0.810 | 0.750 | 4 | 2012 | 2017 | ||||
|
1 | 1.000 | 0.080 | 10 | 79191374 | intron variant | G/-;GG;GGG;GGGG | delins | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.080 | 10 | 79193069 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 0.080 | 10 | 79184390 | intron variant | C/G;T | snv | 0.68 | 0.700 | 1.000 | 1 | 2019 | 2019 |