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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.752 | 0.360 | 5 | 151078585 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.080 | 5 | 110854353 | intergenic variant | T/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
17 | 0.732 | 0.280 | 4 | 24800161 | missense variant | G/C | snv | 1.6E-04 | 2.1E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 2 | 191145463 | intron variant | T/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.080 | 4 | 118953332 | intron variant | G/A | snv | 9.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 4 | 38829975 | intron variant | G/A | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.851 | 0.240 | 1 | 203186870 | upstream gene variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 1.000 | 0.080 | 19 | 56620870 | intron variant | C/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 19 | 51457686 | missense variant | A/G | snv | 0.12 | 0.21 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 2 | 102339008 | missense variant | C/A | snv | 0.23 | 0.30 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 17 | 40017649 | 3 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.925 | 0.080 | 5 | 148827354 | missense variant | C/A;T | snv | 0.23; 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 8 | 23043188 | missense variant | G/A;T | snv | 9.7E-02; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 5 | 143295561 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 0.925 | 0.160 | 5 | 143300556 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
8 | 0.790 | 0.280 | 14 | 35292469 | 5 prime UTR variant | C/G;T | snv | 0.19; 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 1 | 111289601 | upstream gene variant | T/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 196049444 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
15 | 0.732 | 0.440 | 1 | 161674008 | missense variant | T/C | snv | 0.16 | 0.19 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 3 | 39265293 | 3 prime UTR variant | A/G | snv | 0.22 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
10 | 0.776 | 0.320 | 13 | 30737959 | intron variant | A/T | snv | 0.52 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 5 | 159937991 | intron variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
19 | 0.708 | 0.400 | 6 | 46705206 | missense variant | A/G | snv | 0.81 | 0.79 | 0.010 | 1.000 | 1 | 2000 | 2000 |