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 | 10 | 62813563 | missense variant | G/A | snv | 0.830 | 1.000 | 3 | 1999 | 2005 | |||||
|
1 | 1.000 | 0.080 | 17 | 15230953 | missense variant | G/A;T | snv | 8.0E-06 | 0.710 | 1.000 | 1 | 2000 | 2000 | ||||
|
5 | 0.851 | 0.120 | 19 | 40395144 | stop gained | G/A | snv | 8.0E-06 | 0.710 | 1.000 | 5 | 2001 | 2016 | ||||
|
1 | 1.000 | 0.080 | 19 | 40396063 | frameshift variant | A/- | delins | 0.700 | 1.000 | 4 | 2001 | 2013 | |||||
|
1 | 1.000 | 0.080 | 19 | 40395565 | frameshift variant | G/- | delins | 9.9E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2001 | 2001 | |||
|
3 | 0.882 | 0.080 | X | 71224114 | missense variant | T/C | snv | 0.800 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 1 | 161307403 | missense variant | A/G | snv | 0.030 | 1.000 | 3 | 2007 | 2015 | |||||
|
11 | 0.742 | 0.160 | 1 | 161306785 | missense variant | G/A;T | snv | 0.710 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.827 | 0.160 | 1 | 161307268 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.120 | 17 | 15239555 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.827 | 0.240 | 6 | 31507709 | intron variant | C/T | snv | 0.77 | 0.020 | 0.500 | 2 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | 19 | 40397853 | missense variant | G/A | snv | 1.6E-04 | 6.1E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.827 | 0.240 | 10 | 94265734 | intron variant | A/C | snv | 9.7E-02 | 8.4E-02 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 16 | 27352579 | missense variant | C/T | snv | 5.2E-05 | 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
1 | 1.000 | 0.080 | 3 | 9765848 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
47 | 0.605 | 0.760 | 2 | 112836810 | 5 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
17 | 0.724 | 0.320 | 10 | 94298541 | missense variant | C/T | snv | 0.27 | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
12 | 0.742 | 0.360 | 14 | 24510132 | upstream gene variant | C/T | snv | 0.41 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
46 | 0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 1 | 161307402 | missense variant | G/A;C;T | snv | 3.2E-05; 5.2E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |