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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
78 | 0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 | 0.900 | 0.996 | 260 | 2005 | 2020 | |||
|
15 | 0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 | 0.900 | 0.925 | 53 | 2006 | 2019 | |||
|
1 | 1.000 | 0.040 | 12 | 40227006 | intron variant | C/G | snv | 0.23 | 0.800 | 1.000 | 4 | 2011 | 2014 | ||||
|
1 | 1.000 | 0.040 | 12 | 40259708 | intron variant | G/A | snv | 2.4E-03 | 0.800 | 1.000 | 2 | 2011 | 2016 | ||||
|
2 | 0.925 | 0.080 | 12 | 40220632 | intron variant | C/T | snv | 0.13 | 0.710 | 1.000 | 3 | 2014 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 40204350 | intron variant | T/G | snv | 6.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.100 | 1.000 | 46 | 2005 | 2019 | ||||
|
9 | 0.776 | 0.160 | 12 | 40320043 | missense variant | G/A;C;T | snv | 1.6E-04; 1.9E-03; 8.0E-06 | 0.100 | 0.931 | 29 | 2008 | 2019 | ||||
|
7 | 0.790 | 0.120 | 12 | 40309109 | missense variant | G/A;T | snv | 8.5E-02; 1.6E-05 | 0.080 | 1.000 | 8 | 2014 | 2019 | ||||
|
7 | 0.807 | 0.080 | 12 | 40310435 | missense variant | G/A | snv | 7.0E-06 | 0.070 | 1.000 | 7 | 2005 | 2017 | ||||
|
3 | 0.882 | 0.040 | 12 | 40283897 | missense variant | C/T | snv | 7.4E-04 | 2.2E-04 | 0.060 | 0.833 | 6 | 2006 | 2012 | |||
|
7 | 0.790 | 0.120 | 12 | 40263898 | missense variant | C/A;G | snv | 4.0E-06; 8.7E-02 | 0.060 | 1.000 | 6 | 2012 | 2019 | ||||
|
4 | 0.851 | 0.080 | 12 | 40320099 | missense variant | T/A | snv | 0.30 | 0.27 | 0.050 | 0.800 | 5 | 2011 | 2017 | |||
|
2 | 0.925 | 0.040 | 12 | 40308618 | missense variant | A/G | snv | 8.6E-04 | 5.8E-04 | 0.050 | 1.000 | 5 | 2007 | 2019 | |||
|
2 | 0.925 | 0.040 | 12 | 40252984 | missense variant | C/T | snv | 4.9E-04 | 2.4E-04 | 0.040 | 0.500 | 4 | 2012 | 2015 | |||
|
9 | 0.763 | 0.120 | 12 | 40340404 | missense variant | T/C | snv | 0.040 | 1.000 | 4 | 2006 | 2014 | |||||
|
2 | 0.925 | 0.040 | 12 | 40309225 | missense variant | A/C | snv | 0.040 | 1.000 | 4 | 2010 | 2019 | |||||
|
2 | 0.925 | 0.040 | 12 | 40284011 | missense variant | G/A;T | snv | 4.0E-06; 1.0E-03 | 0.030 | 1.000 | 3 | 2006 | 2010 | ||||
|
3 | 0.882 | 0.080 | 12 | 40313976 | missense variant | G/A;C | snv | 4.0E-03; 4.0E-06 | 0.030 | 1.000 | 3 | 2007 | 2015 | ||||
|
7 | 0.827 | 0.120 | 12 | 40321114 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2010 | 2018 | |||||
|
1 | 1.000 | 0.040 | 12 | 40320071 | synonymous variant | A/G | snv | 0.58 | 0.57 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
8 | 0.851 | 0.120 | 12 | 40340380 | missense variant | T/C | snv | 3.2E-05 | 1.4E-05 | 0.020 | 1.000 | 2 | 2016 | 2017 | |||
|
2 | 0.925 | 0.040 | 12 | 40351723 | missense variant | A/G | snv | 3.5E-04 | 5.4E-04 | 0.020 | 1.000 | 2 | 2011 | 2012 | |||
|
1 | 1.000 | 0.040 | 12 | 40223890 | non coding transcript exon variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 12 | 40278187 | missense variant | A/G | snv | 5.8E-02 | 4.7E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |