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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.807 | 0.080 | 1 | 171636310 | missense variant | G/A | snv | 2.0E-05 | 3.5E-05 | 0.060 | 1.000 | 6 | 2003 | 2012 | |||
|
24 | 0.695 | 0.520 | 9 | 22003368 | 3 prime UTR variant | G/A;T | snv | 0.050 | 0.800 | 5 | 2011 | 2017 | |||||
|
9 | 0.776 | 0.160 | 10 | 13110400 | missense variant | T/A | snv | 4.4E-02 | 6.0E-02 | 0.050 | 0.600 | 5 | 2004 | 2010 | |||
|
9 | 0.776 | 0.080 | 1 | 171636331 | missense variant | G/A | snv | 0.050 | 1.000 | 5 | 2002 | 2011 | |||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.040 | 0.750 | 4 | 2009 | 2019 | ||||
|
2 | 0.925 | 0.040 | 2 | 51845108 | intron variant | C/T | snv | 0.18 | 0.040 | 1.000 | 4 | 2009 | 2015 | ||||
|
3 | 0.925 | 0.040 | 1 | 171636382 | missense variant | G/A | snv | 7.0E-04 | 3.1E-04 | 0.040 | 1.000 | 4 | 2000 | 2012 | |||
|
14 | 0.742 | 0.360 | 9 | 117711921 | intron variant | T/G | snv | 0.54 | 0.040 | 1.000 | 4 | 2012 | 2020 | ||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.040 | 0.750 | 4 | 2016 | 2020 | |||
|
2 | 0.925 | 0.040 | 1 | 171652476 | stop gained | G/A;C;T | snv | 7.2E-04; 4.0E-06; 4.0E-06 | 0.040 | 1.000 | 4 | 2000 | 2012 | ||||
|
7 | 0.807 | 0.080 | 9 | 22056500 | intron variant | G/A | snv | 0.50 | 0.030 | 1.000 | 3 | 2012 | 2014 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.030 | 1.000 | 3 | 2009 | 2018 | |||||
|
1 | 1.000 | 0.040 | 6 | 137008718 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.030 | 1.000 | 3 | 2014 | 2019 | |||
|
17 | 0.708 | 0.360 | 9 | 22033367 | non coding transcript exon variant | C/T | snv | 0.71 | 0.030 | 1.000 | 3 | 2012 | 2018 | ||||
|
3 | 0.882 | 0.040 | 1 | 171652385 | missense variant | C/T | snv | 0.15 | 0.11 | 0.030 | 0.667 | 3 | 2001 | 2008 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.030 | 1.000 | 3 | 2011 | 2015 | |||
|
1 | 1.000 | 0.040 | 3 | 136982255 | missense variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.030 | 1.000 | 3 | 2014 | 2019 | |||
|
7 | 0.827 | 0.040 | 1 | 165717968 | TF binding site variant | G/A | snv | 0.85 | 0.030 | 1.000 | 3 | 2012 | 2015 | ||||
|
25 | 0.672 | 0.520 | X | 47585586 | synonymous variant | T/C | snv | 0.46 | 0.46 | 0.030 | 1.000 | 3 | 2011 | 2015 | |||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.030 | 1.000 | 3 | 2017 | 2019 | ||||
|
6 | 0.807 | 0.120 | 1 | 171636131 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2011 | 2019 | |||||
|
3 | 0.882 | 0.040 | 1 | 171636000 | missense variant | G/T | snv | 0.030 | 1.000 | 3 | 1998 | 2011 | |||||
|
6 | 0.807 | 0.120 | 1 | 171652468 | missense variant | C/A | snv | 9.8E-04 | 1.3E-04 | 0.030 | 1.000 | 3 | 2005 | 2012 | |||
|
1 | 1.000 | 0.040 | 11 | 102797141 | synonymous variant | A/G | snv | 8.0E-06 | 1.4E-05 | 0.030 | 1.000 | 3 | 2011 | 2015 | |||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.030 | 1.000 | 3 | 2009 | 2018 |