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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.900 | 0.957 | 23 | 2009 | 2020 | ||||
|
5 | 0.827 | 0.240 | 5 | 96783148 | missense variant | G/C | snv | 0.69 | 0.71 | 0.100 | 1.000 | 16 | 2009 | 2019 | |||
|
46 | 0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 | 0.900 | 1.000 | 14 | 2008 | 2018 | |||
|
4 | 0.882 | 0.240 | 5 | 96786506 | missense variant | C/T | snv | 0.15 | 0.16 | 0.790 | 0.900 | 10 | 2010 | 2019 | |||
|
1 | 1.000 | 0.040 | 5 | 96793809 | synonymous variant | A/G;T | snv | 0.72; 1.2E-05 | 0.890 | 1.000 | 10 | 2009 | 2018 | ||||
|
5 | 0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 | 0.870 | 1.000 | 9 | 2010 | 2019 | ||||
|
3 | 0.882 | 0.120 | 5 | 96793832 | missense variant | T/C | snv | 0.15 | 0.16 | 0.070 | 1.000 | 7 | 2010 | 2020 | |||
|
1 | 1.000 | 0.040 | 5 | 96758990 | intron variant | T/G | snv | 0.72 | 0.760 | 1.000 | 7 | 2010 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.760 | 0.571 | 7 | 2005 | 2018 | ||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.750 | 1.000 | 6 | 2010 | 2019 | ||||
|
4 | 0.882 | 0.240 | 5 | 96783162 | missense variant | C/G;T | snv | 2.8E-05; 0.15 | 0.040 | 1.000 | 4 | 2011 | 2015 | ||||
|
46 | 0.611 | 0.600 | 16 | 50722629 | missense variant | G/C;T | snv | 1.1E-02; 2.2E-04 | 0.730 | 0.750 | 4 | 2002 | 2016 | ||||
|
24 | 0.677 | 0.480 | 2 | 241851281 | missense variant | G/A | snv | 9.2E-02 | 4.3E-02 | 0.040 | 1.000 | 4 | 2011 | 2019 | |||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.040 | 0.500 | 4 | 2006 | 2018 | |||
|
5 | 0.851 | 0.160 | 5 | 159399784 | intron variant | C/A;G | snv | 0.29 | 0.730 | 1.000 | 4 | 2013 | 2018 | ||||
|
40 | 0.627 | 0.720 | 1 | 67259437 | 3 prime UTR variant | C/A | snv | 0.27 | 0.030 | 0.667 | 3 | 2009 | 2018 | ||||
|
10 | 0.752 | 0.400 | 1 | 67274409 | upstream gene variant | G/A | snv | 0.30 | 0.030 | 1.000 | 3 | 2012 | 2017 | ||||
|
5 | 0.827 | 0.120 | 14 | 88022477 | intron variant | T/C | snv | 0.13 | 0.710 | 1.000 | 3 | 2013 | 2019 | ||||
|
43 | 0.620 | 0.720 | 2 | 112785383 | upstream gene variant | G/A;C | snv | 0.32 | 0.030 | 1.000 | 3 | 2011 | 2019 | ||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.030 | 1.000 | 3 | 2018 | 2018 | |||
|
14 | 0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
4 | 0.851 | 0.120 | 5 | 96900192 | splice region variant | A/G | snv | 0.55 | 0.54 | 0.030 | 1.000 | 3 | 2015 | 2019 | |||
|
4 | 0.882 | 0.080 | 5 | 96803547 | missense variant | C/A;G;T | snv | 0.64; 8.0E-06; 9.1E-04 | 0.030 | 1.000 | 3 | 2013 | 2016 | ||||
|
1 | 1.000 | 0.040 | 5 | 96762191 | 3 prime UTR variant | T/G | snv | 0.36 | 0.030 | 0.667 | 3 | 2016 | 2018 | ||||
|
43 | 0.611 | 0.720 | 16 | 3254626 | missense variant | C/G;T | snv | 7.1E-02 | 0.030 | 1.000 | 3 | 2010 | 2018 |