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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.120 | 5 | 96900192 | splice region variant | A/G | snv | 0.55 | 0.54 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
14 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.240 | 5 | 96783148 | missense variant | G/C | snv | 0.69 | 0.71 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.160 | 16 | 88639888 | missense variant | C/A;G | snv | 4.3E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 8184970 | upstream gene variant | A/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.790 | 0.160 | 17 | 80183976 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.807 | 0.160 | 17 | 80182790 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
21 | 0.689 | 0.520 | 18 | 69864406 | missense variant | T/A;C | snv | 4.0E-06; 0.52 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.040 | 1.000 | 4 | 2008 | 2019 | |||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2014 | |||||
|
12 | 0.742 | 0.400 | 1 | 67219704 | missense variant | T/A;C | snv | 0.88 | 0.030 | 1.000 | 3 | 2008 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 67145930 | intron variant | G/A | snv | 0.37 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 1 | 67135003 | intron variant | G/C;T | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.080 | 10 | 66001962 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
13 | 0.742 | 0.400 | 12 | 6341779 | synonymous variant | T/C | snv | 0.37 | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.160 | 2 | 60937196 | non coding transcript exon variant | G/A | snv | 0.25 | 0.810 | 1.000 | 3 | 2012 | 2015 | ||||
|
3 | 0.882 | 0.120 | 2 | 60854407 | intron variant | C/T | snv | 0.35 | 0.810 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 0.020 | 1.000 | 2 | 2013 | 2019 | ||||
|
7 | 0.807 | 0.360 | 12 | 56339747 | synonymous variant | G/A | snv | 4.9E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.080 | 9 | 5169600 | intron variant | C/T | snv | 2.5E-03 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.030 | 1.000 | 3 | 2004 | 2010 | ||||
|
54 | 0.587 | 0.520 | 16 | 50712015 | missense variant | C/T | snv | 2.6E-02 | 2.9E-02 | 0.020 | 0.500 | 2 | 2004 | 2006 |