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 | 0.882 | 0.200 | 7 | 74779296 | missense variant | G/A | snv | 1.1E-03 | 0.040 | 1.000 | 4 | 2017 | 2020 | ||||
|
3 | 0.882 | 0.080 | 7 | 129055929 | non coding transcript exon variant | C/A | snv | 9.0E-02 | 0.710 | 1.000 | 2 | 2013 | 2020 | ||||
|
5 | 0.851 | 0.200 | 21 | 46602317 | synonymous variant | C/A;G;T | snv | 0.65 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
3 | 0.882 | 0.200 | 3 | 10222796 | missense variant | C/G | snv | 0.37 | 0.35 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
2 | 0.925 | 0.120 | 3 | 10234479 | missense variant | T/A | snv | 0.73 | 0.70 | 0.010 | 1.000 | 1 | 2020 | 2020 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.900 | 0.972 | 36 | 2004 | 2019 | |||
|
14 | 0.732 | 0.520 | 16 | 31265490 | missense variant | G/A | snv | 9.7E-02 | 0.11 | 0.900 | 1.000 | 23 | 2009 | 2019 | |||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.100 | 0.889 | 18 | 2006 | 2019 | ||||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.100 | 1.000 | 16 | 2002 | 2019 | |||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.900 | 0.867 | 15 | 2008 | 2019 | ||||
|
18 | 0.695 | 0.520 | 8 | 11491677 | intron variant | G/A | snv | 0.25 | 0.890 | 1.000 | 13 | 2008 | 2019 | ||||
|
22 | 0.683 | 0.480 | 8 | 11486464 | upstream gene variant | C/T | snv | 0.25 | 0.870 | 1.000 | 13 | 2009 | 2019 | ||||
|
9 | 0.763 | 0.400 | 1 | 173222336 | intergenic variant | G/A;T | snv | 0.880 | 1.000 | 12 | 2009 | 2019 | |||||
|
11 | 0.752 | 0.360 | 4 | 101829919 | missense variant | G/A;T | snv | 0.26; 8.0E-06 | 0.880 | 1.000 | 9 | 2008 | 2019 | ||||
|
13 | 0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 | 0.770 | 1.000 | 9 | 2009 | 2019 | |||
|
10 | 0.752 | 0.480 | X | 12889539 | 3 prime UTR variant | C/G;T | snv | 0.080 | 0.875 | 8 | 2010 | 2019 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.770 | 1.000 | 8 | 2011 | 2019 | |||||
|
6 | 0.807 | 0.400 | 1 | 173209324 | upstream gene variant | C/T | snv | 0.57 | 0.060 | 1.000 | 6 | 2011 | 2019 | ||||
|
52 | 0.581 | 0.680 | 20 | 46118343 | 5 prime UTR variant | T/C | snv | 0.75 | 0.80 | 0.060 | 0.833 | 6 | 2015 | 2019 | |||
|
9 | 0.807 | 0.240 | 6 | 32619077 | intergenic variant | G/A | snv | 0.86 | 0.840 | 1.000 | 6 | 2009 | 2019 | ||||
|
10 | 0.827 | 0.200 | 2 | 241851760 | intron variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2007 | 2019 | |||||
|
10 | 0.752 | 0.440 | 7 | 74711703 | intron variant | C/T | snv | 1.3E-02 | 0.040 | 1.000 | 4 | 2015 | 2019 | ||||
|
5 | 0.827 | 0.240 | 1 | 183563445 | missense variant | G/A;C;T | snv | 4.0E-06; 4.0E-06; 3.4E-02 | 0.720 | 1.000 | 4 | 2012 | 2019 | ||||
|
5 | 0.827 | 0.240 | 5 | 160460329 | intron variant | A/G;T | snv | 0.700 | 1.000 | 4 | 2015 | 2019 | |||||
|
9 | 0.776 | 0.280 | 1 | 206770623 | intron variant | C/A;T | snv | 0.11 | 0.720 | 1.000 | 4 | 2013 | 2019 |