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 | 0.040 | 21 | 44852737 | intron variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 139717809 | 3 prime UTR variant | C/T | snv | 0.62 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.925 | 0.080 | 17 | 39908152 | intron variant | C/T | snv | 0.40 | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
2 | 0.925 | 0.080 | 2 | 102348073 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.120 | 17 | 40422984 | intergenic variant | C/T | snv | 0.17 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.120 | 20 | 3669558 | missense variant | G/A | snv | 0.13 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
5 | 0.851 | 0.120 | 20 | 3671118 | missense variant | C/T | snv | 5.1E-05; 7.6E-02 | 6.7E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
6 | 0.827 | 0.120 | 20 | 3671095 | synonymous variant | C/A;G | snv | 4.7E-06; 0.29 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.790 | 0.160 | 17 | 39933091 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
14 | 0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
22 | 0.683 | 0.520 | 16 | 27362859 | missense variant | T/C | snv | 0.16 | 0.22 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
33 | 0.653 | 0.560 | 1 | 203186754 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.030 | 1.000 | 3 | 2005 | 2013 | |||
|
193 | 0.447 | 0.880 | 5 | 160485411 | mature miRNA variant | C/G | snv | 0.71; 4.1E-06 | 0.70 | 0.010 | 1.000 | 1 | 2016 | 2016 |