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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.763 | 0.360 | 3 | 12311699 | intron variant | C/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.732 | 0.320 | 7 | 128933913 | upstream gene variant | G/A | snv | 0.38 | 0.020 | 1.000 | 2 | 2012 | 2013 | ||||
|
26 | 0.662 | 0.520 | 7 | 128938247 | splice donor variant | T/G | snv | 0.52 | 0.090 | 0.889 | 9 | 2009 | 2017 | ||||
|
11 | 0.752 | 0.200 | 7 | 128949373 | 3 prime UTR variant | G/A | snv | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.160 | 7 | 128949579 | 3 prime UTR variant | C/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.280 | 7 | 128954129 | upstream gene variant | T/C | snv | 9.0E-02 | 0.810 | 1.000 | 5 | 2010 | 2019 | ||||
|
10 | 0.752 | 0.440 | 7 | 128954671 | 3 prime UTR variant | C/T | snv | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.827 | 0.200 | 7 | 128977412 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 128984019 | intron variant | C/A | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.827 | 0.240 | 7 | 129007888 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 129011468 | intron variant | C/T | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 129044262 | intron variant | G/C | snv | 9.0E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.080 | 7 | 129055929 | non coding transcript exon variant | C/A | snv | 9.0E-02 | 0.810 | 1.000 | 2 | 2013 | 2020 | ||||
|
1 | 1.000 | 0.040 | 7 | 129068068 | upstream gene variant | G/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 7 | 129068743 | upstream gene variant | T/A | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 10 | 131557214 | intergenic variant | A/G | snv | 0.41 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 5 | 132663802 | intron variant | C/T | snv | 0.24 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
10 | 0.752 | 0.400 | 6 | 137681500 | intron variant | C/T | snv | 0.24 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
14 | 0.742 | 0.440 | 6 | 137685367 | intron variant | G/A | snv | 0.16 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 6 | 137811379 | intergenic variant | T/G | snv | 2.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
19 | 0.701 | 0.440 | 6 | 137874586 | intron variant | C/G | snv | 0.13 | 0.020 | 1.000 | 2 | 2010 | 2017 | ||||
|
27 | 0.662 | 0.440 | 6 | 137874929 | missense variant | T/C;G | snv | 4.0E-06; 5.4E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 6 | 137921300 | intergenic variant | T/C | snv | 3.4E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.851 | 0.160 | 6 | 137922602 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 148697197 | upstream gene variant | T/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2016 | 2016 |