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 | 0.160 | 2 | 185259982 | intergenic variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.160 | 6 | 32693798 | intergenic variant | C/T | snv | 0.53 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 2006 | 2013 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.020 | 0.500 | 2 | 2006 | 2013 | |||
|
2 | 0.925 | 0.240 | 21 | 25997362 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
5 | 0.827 | 0.240 | 14 | 50613343 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.851 | 0.240 | 14 | 50628394 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
21 | 0.677 | 0.680 | 4 | 73741338 | intron variant | C/T | snv | 0.31 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.160 | 19 | 10829132 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
82 | 0.547 | 0.720 | 11 | 46739084 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 0.925 | 0.160 | 6 | 5368994 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
50 | 0.590 | 0.760 | 12 | 68158742 | intron variant | T/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
105 | 0.514 | 0.760 | 6 | 52186235 | upstream gene variant | G/A | snv | 0.28 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
11 | 0.752 | 0.480 | 6 | 52186476 | intron variant | G/A | snv | 0.13 | 8.5E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
87 | 0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.240 | 6 | 52246993 | non coding transcript exon variant | C/A;T | snv | 0.010 | < 0.001 | 1 | 2016 | 2016 | |||||
|
92 | 0.531 | 0.920 | 2 | 112837290 | upstream gene variant | A/G | snv | 0.57 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
57 | 0.602 | 0.720 | 1 | 154454494 | missense variant | A/C;T | snv | 0.38; 1.2E-05 | 0.010 | < 0.001 | 1 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.240 | 5 | 55968325 | missense variant | C/G | snv | 0.13 | 0.21 | 0.010 | < 0.001 | 1 | 2013 | 2013 | |||
|
2 | 1.000 | 0.160 | 2 | 86166521 | missense variant | A/G | snv | 8.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.200 | 21 | 44891898 | synonymous variant | A/C;G | snv | 0.68 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.925 | 0.200 | 1 | 110603902 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.240 | 12 | 57569015 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 |