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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.020 | < 0.001 | 2 | 2012 | 2017 | |||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | < 0.001 | 1 | 2012 | 2012 | |||
|
12 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
58 | 0.581 | 0.680 | 16 | 27363079 | missense variant | A/G | snv | 0.25 | 0.36 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
1 | 4 | 128971750 | non coding transcript exon variant | C/A;G;T | snv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||||
|
6 | 0.851 | 0.160 | 12 | 57472038 | missense variant | G/C | snv | 0.60 | 0.68 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
4 | 0.882 | 0.120 | 2 | 37149148 | 5 prime UTR variant | G/A | snv | 0.34 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.882 | 0.040 | 5 | 132334853 | synonymous variant | C/A;G;T | snv | 4.0E-06; 0.57 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
1 | 10 | 89387005 | intron variant | A/G | snv | 0.96 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||||
|
1 | X | 100850206 | missense variant | C/T | snv | 1.9E-02 | 2.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 0.925 | 0.040 | 1 | 67182950 | missense variant | A/G | snv | 1.6E-05 | 2.1E-05 | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||
|
3 | 0.925 | 0.040 | 1 | 67240217 | missense variant | G/A;T | snv | 1.1E-02 | 1.0E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
2 | 1.000 | 0.120 | 6 | 3359103 | intron variant | T/C | snv | 0.95 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
6 | 0.851 | 0.080 | 12 | 52904822 | missense variant | A/G;T | snv | 1.7E-03; 4.0E-06 | 0.010 | < 0.001 | 1 | 2004 | 2004 | ||||
|
1 | 3 | 80354036 | intergenic variant | C/G | snv | 0.22 | 0.010 | < 0.001 | 1 | 2014 | 2014 | ||||||
|
19 | 0.701 | 0.240 | 12 | 52904798 | missense variant | C/A | snv | 4.9E-03 | 5.4E-03 | 0.020 | 0.500 | 2 | 2004 | 2014 | |||
|
19 | 0.716 | 0.440 | 11 | 46719773 | missense variant | G/A;T | snv | 4.5E-06; 4.5E-06 | 0.020 | 0.500 | 2 | 2002 | 2008 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2007 | ||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
19 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 0.020 | 0.500 | 2 | 2012 | 2019 | |||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.020 | 0.500 | 2 | 2008 | 2017 | |||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.020 | 0.500 | 2 | 2014 | 2019 | |||||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.050 | 0.600 | 5 | 2005 | 2016 |