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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 17 | 2317980 | frameshift variant | -/G | delins | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.080 | 1 | 197328828 | frameshift variant | -/G | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 9 | 27572636 | intron variant | -/GGAAAGTGCAGGACCTCCCTCCTG | delins | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 44350176 | intron variant | -/GTCA | delins | 0.32 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 16 | 1792196 | frameshift variant | -/T | ins | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.080 | 19 | 17641880 | intron variant | A/C | snv | 0.36 | 0.880 | 0.923 | 13 | 2009 | 2019 | ||||
|
5 | 0.851 | 0.080 | 17 | 4946742 | missense variant | A/C | snv | 0.050 | 1.000 | 5 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.080 | 17 | 16342702 | 3 prime UTR variant | A/C | snv | 0.38 | 0.810 | 1.000 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 6 | 49956357 | downstream gene variant | A/C | snv | 6.3E-02 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 9 | 27491264 | intron variant | A/C | snv | 0.67 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 9 | 27516642 | intron variant | A/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 7 | 149506571 | intergenic variant | A/C | snv | 0.96 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 16 | 2760410 | missense variant | A/C;G | snv | 8.0E-06; 8.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 14 | 20699599 | missense variant | A/C;G | snv | 1.0E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 17 | 81996616 | missense variant | A/C;G | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 32033254 | missense variant | A/C;G | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.020 | 1.000 | 2 | 2009 | 2015 | ||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.100 | 1.000 | 30 | 1995 | 2020 | |||
|
15 | 0.732 | 0.160 | 21 | 31663857 | missense variant | A/G | snv | 0.100 | 0.917 | 12 | 1994 | 2017 | |||||
|
5 | 0.827 | 0.120 | 10 | 13132098 | missense variant | A/G | snv | 0.070 | 1.000 | 7 | 2011 | 2018 | |||||
|
7 | 0.807 | 0.120 | 1 | 11022418 | missense variant | A/G | snv | 8.0E-06 | 0.060 | 1.000 | 6 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.080 | 7 | 101916177 | synonymous variant | A/G | snv | 8.0E-06 | 0.050 | 1.000 | 5 | 2004 | 2015 | ||||
|
1 | 1.000 | 0.080 | 17 | 34256238 | synonymous variant | A/G | snv | 1.6E-05 | 7.0E-06 | 0.040 | 1.000 | 4 | 2011 | 2014 | |||
|
5 | 0.851 | 0.080 | 21 | 31667296 | missense variant | A/G | snv | 4.0E-06 | 0.030 | 1.000 | 3 | 2010 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 156842164 | synonymous variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2017 |