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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.732 | 0.240 | 1 | 155192276 | splice acceptor variant | C/A;T | snv | 0.59 | 0.800 | 1.000 | 20 | 2010 | 2018 | ||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.833 | 12 | 2005 | 2014 | |||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.100 | 1.000 | 11 | 2007 | 2019 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.100 | 0.900 | 10 | 2009 | 2015 | ||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.090 | 0.778 | 9 | 2011 | 2018 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.080 | 0.875 | 8 | 2009 | 2015 | |||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.080 | 0.875 | 8 | 2011 | 2016 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.080 | 0.875 | 8 | 2009 | 2015 | |||||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.070 | 1.000 | 7 | 2008 | 2015 | |||||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.060 | 0.667 | 6 | 2002 | 2016 | ||||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.060 | 0.833 | 6 | 2015 | 2018 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.750 | 4 | 2008 | 2017 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 4 | 1987 | 2004 | ||||
|
46 | 0.605 | 0.640 | 2 | 240456086 | non coding transcript exon variant | T/A;C | snv | 0.59 | 0.040 | 0.750 | 4 | 2014 | 2018 | ||||
|
3 | 0.882 | 0.240 | 12 | 25245370 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 1.000 | 3 | 1987 | 2003 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.030 | 1.000 | 3 | 2009 | 2013 | ||||
|
2 | 1.000 | 0.080 | 1 | 45331530 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 1 | 45331502 | missense variant | T/C | snv | 0.700 | 1.000 | 3 | 2004 | 2015 | |||||
|
2 | 1.000 | 0.080 | 5 | 132489457 | missense variant | T/A | snv | 0.700 | 1.000 | 3 | 1998 | 2014 | |||||
|
12 | 0.851 | 0.160 | 12 | 25227349 | missense variant | C/A;T | snv | 0.700 | 1.000 | 3 | 1987 | 2003 | |||||
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 3 | 1987 | 2003 | |||||
|
4 | 0.882 | 0.160 | 2 | 25231099 | 3 prime UTR variant | C/G;T | snv | 0.030 | 1.000 | 3 | 2012 | 2018 | |||||
|
4 | 0.882 | 0.080 | 6 | 41749967 | intron variant | G/A;C | snv | 0.030 | 1.000 | 3 | 2013 | 2016 | |||||
|
55 | 0.581 | 0.640 | 19 | 45352210 | missense variant | C/G;T | snv | 4.0E-06; 6.0E-05 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
7 | 0.827 | 0.120 | 3 | 114643917 | intron variant | C/G;T | snv | 0.720 | 0.667 | 3 | 2011 | 2016 |