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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.827 | 0.040 | 16 | 50710812 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.100 | 1.000 | 13 | 2007 | 2019 | ||||
|
11 | 0.763 | 0.480 | 18 | 12779948 | upstream gene variant | G/T | snv | 0.83 | 0.880 | 1.000 | 12 | 2007 | 2016 | ||||
|
19 | 0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 | 0.880 | 1.000 | 11 | 2007 | 2019 | ||||
|
15 | 0.763 | 0.200 | 16 | 50710713 | missense variant | C/A;T | snv | 4.0E-06; 0.19 | 0.790 | 1.000 | 10 | 2002 | 2014 | ||||
|
14 | 0.742 | 0.440 | 18 | 12809341 | intron variant | A/G | snv | 0.12 | 0.850 | 1.000 | 9 | 2008 | 2016 | ||||
|
5 | 0.882 | 0.040 | 16 | 50722970 | intron variant | A/G | snv | 0.17 | 0.830 | 1.000 | 9 | 2007 | 2019 | ||||
|
9 | 0.776 | 0.360 | 1 | 67204530 | intron variant | G/A | snv | 0.30 | 0.860 | 1.000 | 8 | 2006 | 2019 | ||||
|
10 | 0.763 | 0.280 | 9 | 4981602 | upstream gene variant | C/A;T | snv | 0.850 | 1.000 | 8 | 2008 | 2016 | |||||
|
16 | 0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 | 0.830 | 1.000 | 8 | 2008 | 2017 | |||
|
7 | 0.807 | 0.200 | 16 | 50729868 | frameshift variant | C/-;CC | delins | 0.830 | 1.000 | 8 | 2007 | 2017 | |||||
|
10 | 0.763 | 0.200 | 9 | 114796423 | intron variant | C/T | snv | 0.73 | 0.760 | 1.000 | 8 | 2005 | 2018 | ||||
|
22 | 0.689 | 0.560 | 17 | 42362183 | intron variant | A/G | snv | 0.48 | 0.870 | 1.000 | 8 | 2008 | 2016 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.850 | 1.000 | 7 | 2006 | 2020 | ||||
|
13 | 0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 | 0.850 | 1.000 | 7 | 2007 | 2015 | ||||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.850 | 1.000 | 7 | 2006 | 2013 | |||||
|
12 | 0.742 | 0.320 | 9 | 114790605 | synonymous variant | T/C | snv | 0.71 | 0.75 | 0.850 | 1.000 | 7 | 2005 | 2018 | |||
|
1 | 1.000 | 0.040 | 16 | 50710966 | missense variant | A/G | snv | 9.6E-04 | 3.8E-03 | 0.710 | 1.000 | 7 | 2001 | 2018 | |||
|
2 | 1.000 | 0.040 | 16 | 50712018 | missense variant | C/G;T | snv | 1.2E-05; 3.2E-03 | 0.710 | 1.000 | 7 | 2001 | 2016 | ||||
|
12 | 0.752 | 0.320 | 9 | 114806486 | upstream gene variant | A/G | snv | 0.74 | 0.830 | 1.000 | 7 | 2005 | 2016 | ||||
|
3 | 0.882 | 0.080 | 1 | 67182913 | missense variant | G/A | snv | 7.3E-03 | 4.5E-03 | 0.850 | 1.000 | 7 | 2011 | 2019 | |||
|
1 | 1.000 | 0.040 | 16 | 50699883 | missense variant | T/C | snv | 1.3E-04 | 5.6E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710614 | missense variant | C/T | snv | 1.0E-04 | 1.3E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710654 | missense variant | T/G | snv | 5.6E-04 | 2.6E-04 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710782 | missense variant | G/A | snv | 8.0E-06 | 2.1E-05 | 0.700 | 1.000 | 6 | 2001 | 2016 | |||
|
1 | 1.000 | 0.040 | 16 | 50710792 | missense variant | C/G | snv | 1.9E-03 | 1.5E-03 | 0.700 | 1.000 | 6 | 2001 | 2016 |