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 | 11 | 94447287 | missense variant | C/T | snv | 2.0E-05 | 7.0E-06 | 0.700 | 0 | ||||||||
|
1 | 11 | 94485928 | missense variant | T/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | ||||||||
|
1 | 11 | 94456331 | missense variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.200 | 16 | 53774346 | intron variant | A/G | snv | 0.71 | 0.020 | < 0.001 | 2 | 2013 | 2017 | ||||
|
2 | 14 | 103699501 | missense variant | C/T | snv | 1.0E-04; 4.0E-06 | 3.5E-05 | 0.020 | < 0.001 | 2 | 2003 | 2006 | |||||
|
10 | 0.807 | 0.200 | 14 | 64301584 | splice region variant | C/A;T | snv | 0.020 | < 0.001 | 2 | 2014 | 2019 | |||||
|
12 | 0.763 | 0.280 | 15 | 43475576 | missense variant | G/C;T | snv | 0.36; 4.0E-06 | 0.020 | < 0.001 | 2 | 2011 | 2014 | ||||
|
98 | 0.525 | 0.800 | 4 | 153705165 | missense variant | G/A | snv | 1.7E-02 | 1.8E-02 | 0.020 | < 0.001 | 2 | 2013 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | < 0.001 | 2 | 2008 | 2015 | |||
|
3 | 1.000 | 0.040 | 11 | 35202398 | intron variant | C/T | snv | 0.74 | 0.020 | < 0.001 | 2 | 2016 | 2016 | ||||
|
2 | 17 | 43095876 | missense variant | C/A;T | snv | 0.020 | < 0.001 | 2 | 2003 | 2006 | |||||||
|
4 | 0.925 | 0.080 | 8 | 47891114 | intron variant | T/C | snv | 0.54 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.080 | 2 | 38080719 | intron variant | C/T | snv | 0.23 | 0.010 | < 0.001 | 1 | 2018 | 2018 | ||||
|
5 | 0.882 | 0.080 | 17 | 7674225 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 1993 | 1993 | |||||
|
9 | 0.851 | 0.120 | 7 | 27936944 | intron variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
5 | 0.882 | 0.080 | 9 | 94175398 | intron variant | G/A;C | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.080 | 11 | 35231586 | 3 prime UTR variant | C/T | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
9 | 0.807 | 0.080 | 3 | 189665394 | intron variant | C/T | snv | 0.38 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.080 | 10 | 113678707 | upstream gene variant | G/A | snv | 0.11 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
4 | 0.925 | 0.160 | 2 | 201258757 | intron variant | ATTCTGTC/- | delins | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
15 | 0.724 | 0.280 | 6 | 159688224 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||||
|
2 | 16 | 11915447 | missense variant | C/A | snv | 0.48 | 0.43 | 0.010 | < 0.001 | 1 | 2005 | 2005 | |||||
|
7 | 0.851 | 0.200 | 13 | 32356461 | missense variant | T/C | snv | 1.9E-02 | 8.5E-03 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
4 | 1.000 | 0.040 | 2 | 157761077 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||||
|
2 | 4 | 69096731 | missense variant | G/A;C;T | snv | 1.6E-05; 1.6E-05; 1.4E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 |