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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.925 | 0.080 | 22 | 50721469 | frameshift variant | -/C | delins | 0.700 | 0 | ||||||||
|
1 | 6 | 72433995 | intergenic variant | A/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
3 | 0.925 | 0.040 | 1 | 163063552 | regulatory region variant | A/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
5 | 0.882 | 0.040 | 6 | 27742386 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.925 | 0.040 | 18 | 55487771 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 11 | 98254676 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
21 | 0.701 | 0.160 | 2 | 184913701 | intron variant | A/C;T | snv | 0.100 | 1.000 | 10 | 2011 | 2018 | |||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
77 | 0.554 | 0.760 | 1 | 65592830 | missense variant | A/G | snv | 0.51 | 0.50 | 0.020 | 1.000 | 2 | 2011 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 1998 | 2006 | |||
|
3 | 0.925 | 0.040 | 18 | 55083238 | intergenic variant | A/G | snv | 0.39 | 0.710 | 1.000 | 2 | 2012 | 2014 | ||||
|
2 | 5 | 157515277 | intron variant | A/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 92936280 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.882 | 0.080 | X | 114650913 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
23 | 0.683 | 0.440 | 20 | 4699605 | missense variant | A/G | snv | 0.31 | 0.33 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.827 | 0.160 | 5 | 161329618 | 3 prime UTR variant | A/G | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.882 | 0.040 | 12 | 2235794 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
6 | 0.882 | 0.120 | 10 | 26216567 | upstream gene variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.040 | 11 | 17138601 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 16 | 29977620 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 1.000 | 0.040 | X | 43867148 | intron variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 1.000 | 0.040 | 20 | 19232246 | intron variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.120 | 8 | 6414832 | missense variant | A/G | snv | 2.1E-03 | 1.9E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 |