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 | 0.080 | 10 | 117244053 | synonymous variant | T/A;C;G | snv | 4.0E-06; 7.9E-02 | 0.020 | 1.000 | 2 | 2005 | 2013 | ||||
|
5 | 0.851 | 0.120 | 4 | 99127263 | missense variant | T/C | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
2 | 0.925 | 0.080 | 12 | 13563704 | missense variant | G/A;T | snv | 0.40; 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
8 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
4 | 0.851 | 0.160 | 7 | 136958947 | intron variant | C/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
5 | 0.827 | 0.240 | 11 | 2169721 | missense variant | C/T | snv | 0.43 | 0.32 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2018 | |||
|
4 | 0.925 | 0.120 | 4 | 99144358 | intron variant | T/G | snv | 0.49 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
5 | 0.827 | 0.120 | 1 | 36859876 | missense variant | A/C;G | snv | 0.27; 9.2E-05 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
8 | 0.807 | 0.120 | 6 | 88151489 | intron variant | T/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.080 | 12 | 13563041 | synonymous variant | A/G | snv | 0.13 | 0.17 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.790 | 0.200 | 12 | 13561247 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 | 0.010 | < 0.001 | 1 | 2006 | 2006 | ||||
|
4 | 0.882 | 0.160 | 19 | 9298599 | intron variant | C/G | snv | 0.16 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
11 | 0.776 | 0.120 | 11 | 113412966 | intron variant | C/A | snv | 0.16 | 0.020 | 1.000 | 2 | 2007 | 2014 | ||||
|
1 | 1.000 | 0.080 | 2 | 51821024 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 9 | 21504204 | intron variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.080 | 18 | 59812296 | intergenic variant | T/C | snv | 0.76 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.882 | 0.120 | 10 | 26216567 | upstream gene variant | A/G | snv | 0.36 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
16 | 0.716 | 0.480 | 1 | 23875430 | missense variant | T/C;G | snv | 0.62 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 22 | 37831814 | 3 prime UTR variant | C/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
19 | 0.701 | 0.520 | 1 | 23875429 | missense variant | TT/CC | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
14 | 0.732 | 0.480 | 1 | 23875429 | frameshift variant | TT/C;T | delins | 0.010 | 1.000 | 1 | 2007 | 2007 |