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 | 0.160 | 22 | 28695868 | frameshift variant | AG/- | del | 0.700 | 1.000 | 22 | 1999 | 2014 | |||||
|
15 | 0.732 | 0.240 | 11 | 32396399 | synonymous variant | T/C | snv | 0.24; 4.0E-06 | 0.17 | 0.100 | 1.000 | 11 | 2011 | 2018 | |||
|
4 | 0.851 | 0.280 | 11 | 32392032 | stop gained | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 4 | 1997 | 2013 | ||||
|
5 | 0.882 | 0.240 | 11 | 32428521 | missense variant | G/A;T | snv | 3.9E-04; 2.8E-05 | 0.700 | 1.000 | 4 | 2004 | 2017 | ||||
|
2 | 0.925 | 0.440 | X | 133699902 | stop gained | G/A | snv | 0.700 | 1.000 | 3 | 2007 | 2014 | |||||
|
6 | 0.807 | 0.280 | 11 | 32396401 | stop gained | G/A | snv | 1.4E-05 | 0.710 | 1.000 | 2 | 1997 | 2009 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2017 | 2019 | ||||
|
17 | 0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 | 0.020 | 0.500 | 2 | 2019 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2009 | 2015 | |||
|
1 | 1.000 | 0.160 | 5 | 92558085 | intron variant | C/T | snv | 0.19 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 22 | 30617309 | intron variant | G/A | snv | 8.8E-02 | 0.12 | 0.800 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.160 | 1 | 55047322 | non coding transcript exon variant | G/A | snv | 0.13 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 2 | 15589696 | upstream gene variant | T/G | snv | 0.26 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | X | 17680277 | intron variant | A/G | snv | 0.17 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 11 | 83909744 | intron variant | A/G | snv | 0.50 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.160 | 2 | 15642347 | regulatory region variant | G/T | snv | 0.47 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 5 | 92523322 | intron variant | T/C | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 22 | 30613852 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 11 | 32396372 | frameshift variant | A/- | delins | 0.700 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.160 | 22 | 30615936 | intron variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 22 | 30618390 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.160 | 5 | 92571299 | intron variant | A/G | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.160 | 22 | 30622091 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.790 | 0.280 | 11 | 32391967 | splice region variant | C/T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.160 | 5 | 92568740 | intron variant | G/T | snv | 0.19 | 0.700 | 1.000 | 1 | 2012 | 2012 |