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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
32 | 0.637 | 0.440 | 10 | 88990206 | non coding transcript exon variant | A/G | snv | 0.54 | 0.020 | < 0.001 | 2 | 2014 | 2017 | ||||
|
3 | 0.882 | 0.080 | 19 | 6746039 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.080 | 12 | 130739483 | intergenic variant | T/C | snv | 0.97 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
6 | 0.807 | 0.120 | 6 | 52243264 | intron variant | G/A | snv | 0.75 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 17 | 69955727 | intergenic variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
30 | 0.649 | 0.280 | 10 | 88989499 | intron variant | G/A;T | snv | 0.15 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 6 | 31271730 | missense variant | G/C | snv | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||||
|
8 | 0.776 | 0.120 | 20 | 33676869 | missense variant | C/T | snv | 1.9E-02; 5.1E-06 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
18 | 0.716 | 0.320 | 5 | 1320607 | non coding transcript exon variant | C/T | snv | 0.33 | 0.38 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
62 | 0.578 | 0.440 | 8 | 127401060 | non coding transcript exon variant | G/T | snv | 0.37 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
4 | 0.851 | 0.080 | 22 | 37665657 | missense variant | T/C | snv | 4.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.050 | 0.200 | 5 | 2012 | 2017 | ||||
|
3 | 0.882 | 0.080 | 17 | 61679808 | 3 prime UTR variant | T/A;C | snv | 0.020 | 0.500 | 2 | 2013 | 2016 | |||||
|
27 | 0.658 | 0.560 | 9 | 117715853 | 3 prime UTR variant | G/C | snv | 0.11 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.020 | 0.500 | 2 | 2012 | 2016 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 0.500 | 2 | 2011 | 2018 | |||
|
5 | 0.827 | 0.120 | 17 | 61863458 | 5 prime UTR variant | C/T | snv | 0.42 | 0.020 | 0.500 | 2 | 2016 | 2018 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.020 | 0.500 | 2 | 2009 | 2017 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.050 | 0.600 | 5 | 2008 | 2017 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 0.667 | 3 | 2009 | 2019 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.040 | 0.750 | 4 | 2011 | 2018 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.769 | 13 | 2004 | 2019 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.090 | 0.778 | 9 | 2005 | 2019 | |||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.050 | 0.800 | 5 | 2012 | 2018 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 0.833 | 6 | 2012 | 2018 |