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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 19 | 38710286 | missense variant | A/G | snv | 7.0E-06 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
2 | 0.925 | 0.080 | 4 | 73416326 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.160 | 11 | 32389228 | intron variant | A/G | snv | 0.35 | 0.35 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.160 | 11 | 32436129 | intron variant | A/G | snv | 0.48 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | X | 111687924 | missense variant | AC/TT | mnv | 0.010 | < 0.001 | 1 | 2017 | 2017 | |||||
|
9 | 0.851 | 0.240 | 2 | 216415427 | stop gained | C/A;T | snv | 2.8E-05 | 0.700 | 0 | |||||||
|
43 | 0.683 | 0.480 | 10 | 102657073 | stop gained | C/A;T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 2 | 88595599 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
48 | 0.597 | 0.840 | 19 | 41352971 | missense variant | C/G;T | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 1 | 179575836 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
20 | 0.701 | 0.240 | 1 | 179557079 | missense variant | C/T | snv | 3.0E-02 | 2.8E-02 | 0.090 | 0.778 | 9 | 2002 | 2018 | |||
|
2 | 0.925 | 0.080 | 19 | 38710299 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2008 | 2019 | |||||
|
2 | 0.925 | 0.080 | 11 | 101453062 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 1.000 | 0.080 | 19 | 45777777 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 19 | 35831368 | synonymous variant | C/T | snv | 0.40 | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.807 | 0.280 | 1 | 156136009 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.807 | 0.080 | 1 | 179559710 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
40 | 0.614 | 0.680 | 2 | 203867624 | upstream gene variant | C/T | snv | 6.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.120 | 1 | 179561327 | missense variant | C/T | snv | 6.0E-04 | 5.3E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
4 | 0.851 | 0.160 | 10 | 100749772 | frameshift variant | G/-;GG;GGG | delins | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 38717102 | missense variant | G/A | snv | 1.2E-02 | 9.6E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 10 | 100781314 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
3 | 0.882 | 0.080 | 19 | 35842487 | missense variant | G/A | snv | 2.3E-03 | 1.5E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 |