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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
28 | 0.677 | 0.360 | 1 | 55039974 | missense variant | G/A;T | snv | 1.2E-02 | 0.760 | 0.857 | 7 | 2008 | 2019 | ||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.740 | 1.000 | 5 | 2006 | 2019 | |||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.720 | 1.000 | 3 | 2019 | 2019 | ||||
|
11 | 0.807 | 0.160 | 1 | 182112825 | intron variant | C/T | snv | 0.36 | 0.710 | 1.000 | 2 | 2013 | 2016 | ||||
|
83 | 0.570 | 0.560 | 4 | 99318162 | missense variant | T/C;G | snv | 0.90 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.710 | 1.000 | 2 | 2008 | 2014 | |||
|
47 | 0.641 | 0.640 | 19 | 44908822 | missense variant | C/T | snv | 6.2E-02 | 7.9E-02 | 0.710 | 1.000 | 2 | 2016 | 2019 | |||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
3 | 11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 20 | 63264568 | intron variant | A/C | snv | 0.87 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 6 | 41655295 | downstream gene variant | G/T | snv | 0.19 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 5 | 1877166 | downstream gene variant | A/C;T | snv | 0.710 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 4 | 87834676 | intron variant | T/A;C | snv | 6.1E-05; 0.94 | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 5 | 88477501 | intron variant | G/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 5 | 32832368 | regulatory region variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1.000 | 0.080 | 2 | 65049318 | intron variant | T/C | snv | 0.40 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 8 | 26542619 | intron variant | G/C | snv | 0.29 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
9 | 1.000 | 0.040 | 7 | 151716108 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 8 | 58399138 | intergenic variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 19 | 10222312 | 3 prime UTR variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 17 | 78796097 | 3 prime UTR variant | G/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 9 | 14735055 | 3 prime UTR variant | T/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 16 | 4868325 | intron variant | G/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 10 | 18156159 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 8 | 101803258 | intron variant | C/A | snv | 0.63 | 0.700 | 1.000 | 1 | 2019 | 2019 |