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 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 0.040 | 0.750 | 4 | 2010 | 2018 | ||||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.030 | 1.000 | 3 | 1998 | 2000 | ||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 1.000 | 3 | 2003 | 2014 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.030 | 0.667 | 3 | 2008 | 2010 | |||||
|
27 | 0.672 | 0.520 | 1 | 159713301 | 3 prime UTR variant | G/A | snv | 0.26 | 0.020 | 1.000 | 2 | 2006 | 2008 | ||||
|
7 | 0.807 | 0.200 | 4 | 147472512 | intergenic variant | C/A;G;T | snv | 0.810 | 0.500 | 2 | 2011 | 2014 | |||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
10 | 0.763 | 0.240 | 10 | 44258419 | downstream gene variant | T/C | snv | 0.24 | 0.020 | 0.500 | 2 | 2012 | 2013 | ||||
|
6 | 0.807 | 0.080 | 4 | 168756335 | non coding transcript exon variant | G/A | snv | 0.44 | 0.020 | 1.000 | 2 | 2007 | 2011 | ||||
|
2 | 0.925 | 0.040 | 11 | 89340157 | frameshift variant | G/- | delins | 0.020 | 1.000 | 2 | 2016 | 2017 | |||||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.020 | 1.000 | 2 | 2001 | 2017 | |||||
|
8 | 0.790 | 0.120 | 19 | 11113680 | missense variant | G/T | snv | 0.020 | 1.000 | 2 | 2010 | 2013 | |||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.020 | 1.000 | 2 | 2011 | 2015 | ||||
|
6 | 0.807 | 0.120 | 6 | 31815431 | upstream gene variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
7 | 0.807 | 0.120 | 2 | 85581859 | 3 prime UTR variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 7 | 24765621 | regulatory region variant | C/T | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.040 | 1 | 163143470 | 3 prime UTR variant | G/T | snv | 0.37 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
16 | 0.763 | 0.120 | 19 | 11052925 | intron variant | G/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 8 | 122395852 | intergenic variant | G/A | snv | 0.40 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
46 | 0.602 | 0.680 | 1 | 159712443 | 3 prime UTR variant | C/T | snv | 0.30 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
19 | 0.708 | 0.280 | 6 | 133893387 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
5 | 0.851 | 0.040 | 1 | 201376359 | intron variant | G/A | snv | 0.27 | 0.010 | < 0.001 | 1 | 2013 | 2013 |