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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 7 | 100689872 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.080 | 7 | 100701361 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.882 | 0.040 | 7 | 100715797 | upstream gene variant | A/G | snv | 0.90 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 102241743 | non coding transcript exon variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
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 | ||||
|
1 | 1.000 | 0.040 | 7 | 103105631 | intron variant | A/C | snv | 6.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 7 | 103134811 | intron variant | C/A | snv | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | 7 | 103545430 | intron variant | C/A | snv | 0.32 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
5 | 0.882 | 0.040 | 11 | 10369034 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 13 | 104623579 | intergenic variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 7 | 104776829 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.724 | 0.360 | 14 | 104780070 | intron variant | G/A;C | snv | 0.16; 4.0E-03 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
12 | 0.742 | 0.280 | 14 | 104793397 | 5 prime UTR variant | C/A | snv | 0.31 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
6 | 0.827 | 0.120 | 14 | 104803442 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.040 | 3 | 10483412 | intron variant | A/G | snv | 0.60 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.851 | 0.040 | 8 | 105130105 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 7 | 105407711 | intergenic variant | C/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.882 | 0.080 | 13 | 105458546 | upstream gene variant | C/A | snv | 0.63 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 13 | 105464999 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.807 | 0.080 | 13 | 105467097 | missense variant | G/A | snv | 0.40 | 0.32 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
1 | 1.000 | 0.040 | 13 | 105468070 | intron variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.080 | 13 | 105475787 | intron variant | A/C | snv | 0.32 | 0.020 | 1.000 | 2 | 2009 | 2011 | ||||
|
3 | 0.882 | 0.040 | 13 | 105486017 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2012 | 2012 |