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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 12 | 102419531 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 12 | 102480984 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
11 | 0.752 | 0.440 | 12 | 102481086 | intron variant | A/G | snv | 5.6E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 113398557 | missense variant | G/A | snv | 1.3E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
121 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 2 | 11787112 | missense variant | G/A;T | snv | 1.6E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.080 | 2 | 11797032 | intron variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | < 0.001 | 1 | 2001 | 2001 | ||||
|
1 | 1.000 | 0.040 | 11 | 120480110 | missense variant | A/G | snv | 3.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.925 | 0.120 | 12 | 120737721 | non coding transcript exon variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
21 | 0.689 | 0.520 | 12 | 121177300 | missense variant | G/A;T | snv | 0.35; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
7 | 0.827 | 0.160 | 12 | 121232997 | missense variant | G/A | snv | 1.6E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.851 | 0.160 | 3 | 12287696 | intron variant | G/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.090 | 1.000 | 9 | 1999 | 2013 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.090 | 1.000 | 9 | 1999 | 2013 | |||||
|
4 | 0.882 | 0.080 | 6 | 134167822 | downstream gene variant | T/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.040 | 5 | 143342788 | intron variant | T/C | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
49 | 0.595 | 0.680 | 5 | 143399752 | missense variant | T/A;C | snv | 2.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.030 | 1.000 | 3 | 2000 | 2000 | |||||
|
15 | 0.732 | 0.320 | 1 | 156138697 | synonymous variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
7 | 0.807 | 0.360 | 6 | 160130172 | missense variant | G/A;C;T | snv | 4.0E-06; 0.83; 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
8 | 0.807 | 0.280 | 6 | 160139813 | missense variant | A/C;G | snv | 5.3E-05; 0.63 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.160 | 11 | 17387907 | missense variant | G/A;C | snv | 0.700 | 0 |