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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | |||
|
5 | 0.882 | 0.040 | 1 | 3167148 | intron variant | T/A;C | snv | 0.880 | 1.000 | 9 | 2011 | 2020 | |||||
|
4 | 0.925 | 0.040 | 1 | 115135325 | TF binding site variant | C/A | snv | 9.2E-02 | 0.830 | 0.800 | 5 | 2013 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.050 | 1.000 | 5 | 2003 | 2018 | |||||
|
3 | 0.925 | 0.040 | 1 | 156476450 | intron variant | C/A | snv | 0.62 | 0.54 | 0.820 | 0.500 | 4 | 2012 | 2017 | |||
|
2 | 1.000 | 0.040 | 1 | 4122946 | intergenic variant | A/G | snv | 0.29 | 0.820 | 0.667 | 3 | 2013 | 2017 | ||||
|
2 | 1.000 | 0.040 | 1 | 115134562 | regulatory region variant | T/C | snv | 0.14 | 0.720 | 1.000 | 3 | 2013 | 2018 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2011 | 2013 | |||
|
1 | 1 | 156480948 | missense variant | G/A;C | snv | 0.62 | 0.800 | 1.000 | 2 | 2012 | 2016 | ||||||
|
1 | 1 | 156486509 | intron variant | -/T | delins | 0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
9 | 0.807 | 0.080 | 1 | 31626924 | missense variant | A/G | snv | 0.56 | 0.50 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
13 | 0.776 | 0.360 | 1 | 7853370 | missense variant | G/A | snv | 0.51 | 0.52 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
15 | 0.732 | 0.440 | 1 | 7849677 | missense variant | C/T | snv | 8.7E-02 | 5.6E-02 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
1 | 1 | 156486509 | intron variant | C/T | snv | 0.54 | 0.800 | 1.000 | 2 | 2012 | 2013 | ||||||
|
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 | ||||||
|
3 | 1 | 156464911 | 3 prime UTR variant | G/T | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 15222140 | upstream gene variant | G/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 3186748 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 156503322 | upstream gene variant | C/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 73434059 | intergenic variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 1.000 | 0.040 | 1 | 174583673 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1 | 54202605 | intron variant | A/G | snv | 0.35 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 1 | 73402703 | intergenic variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 1 | 3164677 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 |