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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 4 | 102263495 | intron variant | G/C | snv | 0.82 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.750 | 1.000 | 7 | 2015 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 102268259 | intron variant | G/A | snv | 0.51 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 102279420 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 102287546 | intron variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 102296823 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 2 | 102384942 | synonymous variant | C/T | snv | 0.26 | 0.24 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
2 | 0.925 | 0.040 | 5 | 102434022 | intron variant | C/T | snv | 0.64 | 0.810 | 0.667 | 3 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.040 | 2 | 102441432 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 5 | 102444775 | intron variant | T/G | snv | 0.19 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 12 | 102492363 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
1 | 1.000 | 0.040 | 5 | 102523613 | regulatory region variant | C/T | snv | 0.66 | 0.800 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 10 | 102540881 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.040 | 10 | 102664043 | downstream gene variant | T/G | snv | 0.13 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 102696929 | intron variant | T/C | snv | 0.11 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 102776603 | intron variant | G/A | snv | 8.9E-02 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
1 | 1.000 | 0.040 | 10 | 102814805 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.040 | 12 | 102846289 | intron variant | C/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.040 | 10 | 102852578 | intron variant | T/A | snv | 0.36 | 0.710 | 1.000 | 4 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 102866129 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||
|
2 | 1.000 | 0.040 | 10 | 102869116 | intron variant | A/G | snv | 0.35 | 0.800 | 1.000 | 2 | 2013 | 2019 | ||||
|
4 | 1.000 | 0.040 | 10 | 102875346 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 10 | 102880295 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 1.000 | 0.040 | 10 | 102894820 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 |