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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
30 | 0.683 | 0.440 | 1 | 155235252 | missense variant | A/C;G | snv | 8.0E-06; 1.3E-03 | 0.100 | 0.962 | 26 | 2009 | 2020 | ||||
|
35 | 0.658 | 0.520 | 1 | 155235843 | missense variant | T/C;G | snv | 2.3E-03 | 0.100 | 0.955 | 22 | 2004 | 2020 | ||||
|
21 | 0.716 | 0.400 | 1 | 155236354 | missense variant | T/C | snv | 1.4E-05 | 0.100 | 0.950 | 20 | 2004 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.933 | 15 | 2004 | 2019 | |||
|
7 | 0.790 | 0.080 | 1 | 7984981 | missense variant | T/C | snv | 0.100 | 1.000 | 13 | 2003 | 2017 | |||||
|
18 | 0.776 | 0.160 | 1 | 155236376 | missense variant | C/T | snv | 1.0E-02 | 1.0E-02 | 0.790 | 1.000 | 10 | 2012 | 2019 | |||
|
7 | 0.790 | 0.080 | 1 | 20644639 | missense variant | G/A | snv | 0.070 | 0.857 | 7 | 2005 | 2015 | |||||
|
1 | 1.000 | 0.040 | 1 | 205795512 | non coding transcript exon variant | G/A | snv | 0.77 | 0.70 | 0.850 | 1.000 | 7 | 2011 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.060 | 0.833 | 6 | 2007 | 2019 | |||||
|
3 | 0.925 | 0.080 | 1 | 205754444 | upstream gene variant | C/A;T | snv | 0.730 | 0.833 | 6 | 2014 | 2020 | |||||
|
1 | 1.000 | 0.040 | 1 | 205744250 | intron variant | G/A | snv | 0.88 | 0.850 | 1.000 | 6 | 2009 | 2018 | ||||
|
3 | 0.925 | 0.040 | 1 | 205783537 | non coding transcript exon variant | A/G | snv | 0.64 | 0.840 | 1.000 | 6 | 2009 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 232528865 | intron variant | C/T | snv | 0.12 | 0.730 | 1.000 | 5 | 2014 | 2018 | ||||
|
1 | 1.000 | 0.040 | 1 | 205838885 | intron variant | C/A;T | snv | 0.730 | 1.000 | 5 | 2009 | 2016 | |||||
|
2 | 0.925 | 0.040 | 1 | 16991749 | missense variant | C/T | snv | 1.8E-04 | 7.7E-05 | 0.050 | 0.400 | 5 | 2010 | 2016 | |||
|
6 | 0.807 | 0.080 | 1 | 7962863 | missense variant | G/A | snv | 0.050 | 0.600 | 5 | 2003 | 2016 | |||||
|
4 | 0.851 | 0.120 | 1 | 155239889 | missense variant | T/C | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 2014 | 2018 | ||||
|
2 | 1.000 | 0.040 | 1 | 171863954 | intron variant | C/G;T | snv | 0.040 | 0.750 | 4 | 2018 | 2019 | |||||
|
3 | 0.882 | 0.120 | 1 | 155238630 | missense variant | G/A | snv | 2.8E-05 | 0.040 | 1.000 | 4 | 2009 | 2016 | ||||
|
1 | 1.000 | 0.040 | 1 | 205808652 | intron variant | G/A | snv | 0.66 | 0.720 | 1.000 | 4 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.080 | 1 | 205775090 | splice region variant | C/A;T | snv | 0.14 | 0.030 | 1.000 | 3 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 156060246 | upstream gene variant | C/G;T | snv | 1.5E-02 | 0.810 | 1.000 | 3 | 2011 | 2012 | ||||
|
6 | 0.882 | 0.160 | 1 | 155236246 | missense variant | G/A | snv | 5.9E-03 | 6.2E-03 | 0.030 | 1.000 | 3 | 2016 | 2020 | |||
|
2 | 0.925 | 0.040 | 1 | 54106570 | intron variant | C/A | snv | 0.57 | 0.720 | 1.000 | 2 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 1 | 205810103 | synonymous variant | G/A | snv | 0.29 | 0.23 | 0.020 | 1.000 | 2 | 2015 | 2016 |