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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.790 | 0.160 | 11 | 113475529 | intron variant | -/G | delins | 0.020 | 0.500 | 2 | 2013 | 2015 | |||||
|
1 | 3 | 172505416 | downstream gene variant | -/GAGT | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
1 | 16 | 75408246 | intron variant | -/GC | ins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 156486509 | intron variant | -/T | delins | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
1 | 3 | 154572157 | regulatory region variant | A/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 17 | 3518181 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 7 | 40367277 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
3 | 14 | 93129246 | regulatory region variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
4 | 0.925 | 0.080 | X | 152652814 | missense variant | A/C;T | snv | 0.020 | 1.000 | 2 | 2013 | 2018 | |||||
|
1 | 2 | 132469969 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 1 | 73402703 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
4 | 0.882 | 0.120 | 2 | 237858561 | upstream gene variant | A/C;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
67 | 0.570 | 0.680 | 6 | 43768652 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.968 | 31 | 2000 | 2019 | |||
|
7 | 0.851 | 0.160 | 11 | 113412755 | synonymous variant | A/G | snv | 0.64 | 0.58 | 0.040 | 0.750 | 4 | 2012 | 2015 | |||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 4 | 2012 | 2016 | ||||
|
2 | 1.000 | 0.040 | 1 | 4122946 | intergenic variant | A/G | snv | 0.29 | 0.820 | 0.667 | 3 | 2013 | 2017 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.020 | 1.000 | 2 | 2012 | 2017 | |||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
1 | 10 | 33179196 | 3 prime UTR variant | A/G | snv | 0.21 | 0.710 | 1.000 | 2 | 2016 | 2018 | ||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 1.000 | 2 | 2009 | 2015 | |||
|
1 | 1 | 3159033 | intron variant | A/G | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 18 | 57511578 | intergenic variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 10 | 14903407 | 3 prime UTR variant | A/G | snv | 9.5E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 |