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 | 0.925 | 0.080 | 7 | 100185286 | intron variant | C/T | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 100363657 | regulatory region variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.040 | 4 | 100829496 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 6 | 100939428 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.742 | 0.200 | 7 | 101126257 | upstream gene variant | A/G | snv | 0.54 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
31 | 0.649 | 0.600 | 7 | 101126430 | upstream gene variant | A/G | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
6 | 0.807 | 0.200 | 7 | 101128436 | missense variant | G/A | snv | 9.5E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 7 | 101128442 | missense variant | G/A | snv | 2.9E-02 | 3.3E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.040 | 7 | 101133650 | intron variant | G/A;T | snv | 0.41 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 7 | 101138164 | 3 prime UTR variant | T/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 1.000 | 0.040 | 7 | 101642897 | intergenic variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.925 | 0.080 | 8 | 101819970 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 7 | 102205168 | missense variant | C/T | snv | 8.6E-04 | 3.0E-04 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
2 | 0.925 | 0.040 | 5 | 102434022 | intron variant | C/T | snv | 0.64 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.040 | 5 | 102444775 | intron variant | T/G | snv | 0.19 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
9 | 0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.040 | 10 | 103016151 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.040 | 20 | 10303770 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 14 | 103037856 | intron variant | C/A;T | snv | 2.1E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
10 | 0.790 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 8 | 10307685 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 3 | 103112741 | regulatory region variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
13 | 0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.040 | 12 | 103218955 | intergenic variant | G/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 10 | 103390184 | intron variant | T/A;C | snv | 4.3E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 |